ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.120C>A (p.Asn40Lys)

dbSNP: rs1579379803
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001234262 SCV001406899 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2022-05-06 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. ClinVar contains an entry for this variant (Variation ID: 960690). 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 40 of the SDHA protein (p.Asn40Lys). This variant has not been reported in the literature in individuals affected with SDHA-related conditions.

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