NM_000284.4(PDHA1):c.1025T>G (p.Val342Gly) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 2, 2016
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:: RCV000435734.1

Allele description [Variation Report for NM_000284.4(PDHA1):c.1025T>G (p.Val342Gly)]

NM_000284.4(PDHA1):c.1025T>G (p.Val342Gly)

Gene:

PDHA1:pyruvate dehydrogenase E1 subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.12

Genomic location:

Preferred name:

NM_000284.4(PDHA1):c.1025T>G (p.Val342Gly)

HGVS:

NC_000023.11:g.19359505T>G
NG_016781.1:g.20613T>G
NG_021184.1:g.160757A>C
NM_000284.4:c.1025T>GMANE SELECT
NM_001173454.2:c.1139T>G
NM_001173455.2:c.1046T>G
NM_001173456.2:c.932T>G
NP_000275.1:p.Val342Gly
NP_001166925.1:p.Val380Gly
NP_001166926.1:p.Val349Gly
NP_001166927.1:p.Val311Gly
NC_000023.10:g.19377623T>G
NM_000284.3:c.1025T>G

Protein change:

V311G

Links:

dbSNP: rs1057523018

NCBI 1000 Genomes Browser:

rs1057523018

Molecular consequence:

NM_000284.4:c.1025T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001173454.2:c.1139T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001173455.2:c.1046T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001173456.2:c.932T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000530408	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Aug 2, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000530408

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Aug 2, 2016)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000530408.4

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

Description

The V342G variant in the PDHA1 gene has not been reported previously as a pathogenic variant, noras a benign variant, to our knowledge. The V342G variant was not observed in approximately 6500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. The V342G variant is aconservative amino acid substitution which occurs at a position that is conserved across species.Insilico analysis predicts this variant is probably damaging to the protein structure/function. The V342Gvariant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variantcannot be excluded.

#	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		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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