ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.44G>C (p.Arg15Pro)

dbSNP: rs1060503707
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470530 SCV000553860 uncertain significance Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-06-29 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 not expected to disrupt SDHA protein function. ClinVar contains an entry for this variant (Variation ID: 412348). 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 arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 15 of the SDHA protein (p.Arg15Pro).
Sema4, Sema4 RCV002255398 SCV002527749 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-19 criteria provided, single submitter curation
Ambry Genetics RCV002255398 SCV002635415 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-07 criteria provided, single submitter clinical testing The p.R15P variant (also known as c.44G>C), located in coding exon 1 of the SDHA gene, results from a G to C substitution at nucleotide position 44. The arginine at codon 15 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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