ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.835A>G (p.Met279Val)

gnomAD frequency: 0.00001  dbSNP: rs755913710
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468486 SCV000553868 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-08-11 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 279 of the SDHA protein (p.Met279Val). This variant is present in population databases (rs755913710, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 412355). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SDHA protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002436467 SCV002676653 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-10 criteria provided, single submitter clinical testing The p.M279V variant (also known as c.835A>G), located in coding exon 7 of the SDHA gene, results from an A to G substitution at nucleotide position 835. The methionine at codon 279 is replaced by valine, an amino acid with highly similar properties. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003480648 SCV004227050 uncertain significance not provided 2023-04-27 criteria provided, single submitter clinical testing

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