NM_004168.4(SDHA):c.1930G>A (p.Val644Met) AND Pheochromocytoma/paraganglioma syndrome 5

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 21, 2023
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:: RCV000662992.3

Allele description [Variation Report for NM_004168.4(SDHA):c.1930G>A (p.Val644Met)]

NM_004168.4(SDHA):c.1930G>A (p.Val644Met)

Gene:

SDHA:succinate dehydrogenase complex flavoprotein subunit A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

Preferred name:

NM_004168.4(SDHA):c.1930G>A (p.Val644Met)

HGVS:

NC_000005.10:g.256355G>A
NG_012339.1:g.43115G>A
NM_001294332.2:c.1786G>A
NM_001330758.2:c.1687G>A
NM_004168.4:c.1930G>AMANE SELECT
NP_001281261.1:p.Val596Met
NP_001317687.1:p.Val563Met
NP_004159.2:p.Val644Met
LRG_315t1:c.1930G>A
LRG_315:g.43115G>A
LRG_315p1:p.Val644Met
NC_000005.9:g.256470G>A
NM_004168.2:c.1930G>A
NM_004168.3:c.1930G>A

Protein change:

V563M

Links:

dbSNP: rs3211483

NCBI 1000 Genomes Browser:

rs3211483

Molecular consequence:

NM_001294332.2:c.1786G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330758.2:c.1687G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004168.4:c.1930G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pheochromocytoma/paraganglioma syndrome 5
Synonyms:: Paragangliomas 5
Identifiers:: MONDO: MONDO:0013602; MedGen: C3279992; Orphanet: 29072; OMIM: 614165

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000785983	Counsyl	no assertion criteria provided	Uncertain significance (Jan 29, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004018602	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Uncertain significance (Apr 21, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000785983

Counsyl

no assertion criteria provided

Uncertain significance
(Jan 29, 2018)

unknown

clinical testing

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

SCV004018602

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Uncertain significance
(Apr 21, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.

Forleo C, D'Erchia AM, Sorrentino S, Manzari C, Chiara M, Iacoviello M, Guaricci AI, De Santis D, Musci RL, La Spada A, Marangelli V, Pesole G, Favale S.

PLoS One. 2017;12(7):e0181842. doi: 10.1371/journal.pone.0181842.

PubMed [citation]

PMID:: 28750076
PMCID:: PMC5531468

Details of each submission

From Counsyl, SCV000785983.3

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

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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

From Myriad Genetics, Inc., SCV004018602.1

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

Description

This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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

Last Updated: Dec 7, 2025

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