ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)

gnomAD frequency: 0.00058  dbSNP: rs372480044
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000239361 SCV000297689 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574591 SCV000664530 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-20 criteria provided, single submitter clinical testing The p.E640G variant (also known as c.1919A>G), located in coding exon 15 of the SDHA gene, results from an A to G substitution at nucleotide position 1919. The glutamic acid at codon 640 is replaced by glycine, an amino acid with similar properties. This alteration was detected in a large Brazilian family with multiple cases of papillary thyroid cancer, but it did not segregate with disease (Accordi ED et al. Eur Thyroid J. 2016 Jul;5:94-9). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Counsyl RCV000663177 SCV000786344 uncertain significance Paragangliomas 5 2018-04-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765835 SCV000897230 uncertain significance Leigh syndrome; Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000836807 SCV000978653 likely benign not provided 2019-12-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17376234, 27493882, 31376648)
Sema4, Sema4 RCV000574591 SCV002527736 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-25 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000663177 SCV004018601 uncertain significance Paragangliomas 5 2023-04-21 criteria provided, single submitter clinical testing 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.

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