ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1177G>T (p.Val393Leu)

dbSNP: rs372989971
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548710 SCV000651354 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV001329181 SCV001520545 uncertain significance Mitochondrial complex II deficiency, nuclear type 1 2020-07-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Sema4, Sema4 RCV002258966 SCV002527693 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-06 criteria provided, single submitter curation
Ambry Genetics RCV002258966 SCV002639034 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-28 criteria provided, single submitter clinical testing The p.V393L variant (also known as c.1177G>T), located in coding exon 9 of the SDHA gene, results from a G to T substitution at nucleotide position 1177. The valine at codon 393 is replaced by leucine, an amino acid with highly similar properties. In a study of 1012 unrelated patients from India with suspected neurological disorders, this variant was observed in a patient with myopathy, who also was heterozygous for SDHA p.A69T; however, the phase (whether in cis or trans) was not specified and further clinical information was not provided (Ganapathy A et al. J. Neurol. 2019 Aug;266:1919-1926). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003139851 SCV003819241 uncertain significance not provided 2021-09-03 criteria provided, single submitter clinical testing

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