ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.478T>C (p.Phe160Leu)

gnomAD frequency: 0.00001  dbSNP: rs775074528
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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 RCV001921634 SCV002198907 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-01-17 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 160 of the SDHA protein (p.Phe160Leu). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SDHA protein function. ClinVar contains an entry for this variant (Variation ID: 1424413). This variant has not been reported in the literature in individuals affected with SDHA-related conditions. This variant is present in population databases (rs775074528, gnomAD 0.003%).

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