NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Jan 25, 2024
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:: RCV000512878.34

Allele description [Variation Report for NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)]

NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)

Gene:

PITPNM3:PITPNM family member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

Preferred name:

NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)

HGVS:

NC_000017.11:g.6468237C>G
NG_016020.1:g.93321G>C
NM_001165966.2:c.1770G>C
NM_031220.4:c.1878G>CMANE SELECT
NP_001159438.1:p.Gln590His
NP_112497.2:p.Gln626His
NC_000017.10:g.6371557C>G
NM_031220.3:c.1878G>C
Q9BZ71:p.Gln626His

Protein change:

Q590H; GLN626HIS

Links:

UniProtKB: Q9BZ71#VAR_046787; OMIM: 608921.0001; dbSNP: rs76024428

NCBI 1000 Genomes Browser:

rs76024428

Molecular consequence:

NM_001165966.2:c.1770G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_031220.4:c.1878G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000203255	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Feb 20, 2015)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 17377520, 22405330 Citation Link,
SCV000608801	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Apr 1, 2017)	germline	clinical testing	Citation Link,
SCV001099581	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 25, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000203255

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Feb 20, 2015)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000608801

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely pathogenic
(Apr 1, 2017)

germline

clinical testing

Citation Link,

SCV001099581

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 25, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.

Köhn L, Kadzhaev K, Burstedt MS, Haraldsson S, Hallberg B, Sandgren O, Golovleva I.

Eur J Hum Genet. 2007 Jun;15(6):664-71. Epub 2007 Mar 21.

PubMed [citation]

PMID:: 17377520

Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.

Reinis A, Golovleva I, Köhn L, Sandgren O.

Acta Ophthalmol. 2013 May;91(3):259-66. doi: 10.1111/j.1755-3768.2011.02381.x. Epub 2012 Mar 9.

PubMed [citation]

PMID:: 22405330

See all PubMed Citations (3)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000203255.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (2)

#	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		2	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV000608801.25

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

From Invitae, SCV001099581.6

#	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

Last Updated: Apr 20, 2024

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