ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1058A>C (p.Glu353Ala)

dbSNP: rs2126578405
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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 RCV002019630 SCV002285942 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with alanine at codon 353 of the SDHA protein (p.Glu353Ala). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. 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.

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