ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.268G>A (p.Val90Ile)

dbSNP: rs2126543120
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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 RCV001873104 SCV002140566 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2021-09-01 criteria provided, single submitter clinical testing 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. This sequence change replaces valine with isoleucine at codon 90 of the SDHA protein (p.Val90Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine.

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