NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 19, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001267559.3

Allele description [Variation Report for NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys)]

NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys)

Gene:

DYNC1H1:dynein cytoplasmic 1 heavy chain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.31

Genomic location:

Preferred name:

NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys)

HGVS:

NC_000014.9:g.102012450C>T
NG_008777.1:g.52923C>T
NM_001376.5:c.6994C>TMANE SELECT
NP_001367.2:p.Arg2332Cys
NC_000014.8:g.102478787C>T
NM_001376.4:c.6994C>T

Protein change:

R2332C

Links:

dbSNP: rs1057518961

Molecular consequence:

NM_001376.5:c.6994C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001445740	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Aug 19, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25590979, 27754416, 29286531 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001445740

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Aug 19, 2019)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
African American	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, et al.

Genet Med. 2015 Oct;17(10):774-81. doi: 10.1038/gim.2014.191. Epub 2015 Jan 15.

PubMed [citation]

PMID:: 25590979
PMCID:: PMC4791490

Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient.

Gelineau-Morel R, Lukacs M, Weaver KN, Hufnagel RB, Gilbert DL, Stottmann RW.

Genes (Basel). 2016 Oct 14;7(10).

PubMed [citation]

PMID:: 27754416
PMCID:: PMC5083924

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV001445740.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African American	1	not provided	not provided	clinical testing	PubMed (3)

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

Last Updated: Apr 25, 2026

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