NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val) AND Primary ciliary dyskinesia

Germline classification:: Conflicting classifications of pathogenicity (3 submissions)
Last evaluated:: Jan 19, 2026
Review status:: criteria provided, conflicting classifications

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000232038.21

Allele description [Variation Report for NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)]

NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)

Gene:

DNAI2:dynein axonemal intermediate chain 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

Preferred name:

NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)

HGVS:

NC_000017.11:g.74312082C>T
NG_016865.1:g.42836C>T
NM_001172810.3:c.1538C>T
NM_001353167.2:c.1574C>T
NM_023036.6:c.1574C>TMANE SELECT
NP_001166281.1:p.Ala513Val
NP_001340096.1:p.Ala525Val
NP_075462.3:p.Ala525Val
NC_000017.10:g.72308221C>T
NM_023036.4:c.1574C>T

Protein change:

A513V

Links:

dbSNP: rs145602856

Molecular consequence:

NM_001172810.3:c.1538C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353167.2:c.1574C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_023036.6:c.1574C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Primary ciliary dyskinesia
Synonyms:: Ciliary dyskinesia
Identifiers:: MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000290684	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 19, 2026)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002088876	Natera, Inc.	no assertion criteria provided	Likely benign (Jan 29, 2020)	germline	clinical testing
SCV002703584	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 8, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000290684

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 19, 2026)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002088876

Natera, Inc.

no assertion criteria provided

Likely benign
(Jan 29, 2020)

germline

clinical testing

SCV002703584

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 8, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000290684.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV002088876.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Ambry Genetics, SCV002703584.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.A525V variant (also known as c.1574C>T), located in coding exon 11 of the DNAI2 gene, results from a C to T substitution at nucleotide position 1574. The alanine at codon 525 is replaced by valine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs145602856. Based on data from the 1000 Genomes Project, the T allele has an overall frequency of approximately 0.14% (3/2098) total alleles studied. The highest observed frequency was 0.59% (1/170) CEPH alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.02% (2/13006) total alleles studied, having been observed in 0.02% (1/4406) African American alleles and 0.01% (1/8600) European American alleles. This amino acid position is poorly conserved on species alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence for this variant is limited at this time, the clinical significance of this variant remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 20, 2026

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