ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1697T>G (p.Leu566Arg)

dbSNP: rs1579438883
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797716 SCV000937292 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2021-11-19 criteria provided, single submitter clinical testing 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. 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 expected to disrupt SDHA protein function. ClinVar contains an entry for this variant (Variation ID: 643904). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 566 of the SDHA protein (p.Leu566Arg).
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003225735 SCV003807928 uncertain significance Dilated cardiomyopathy 1GG 2022-10-28 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP3 supporting

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