ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.94A>G (p.Thr32Ala)

dbSNP: rs1457574786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530558 SCV000641451 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-08-07 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 465980). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 32 of the SDHC protein (p.Thr32Ala).
Ambry Genetics RCV003302833 SCV003997172 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-27 criteria provided, single submitter clinical testing The p.T32A variant (also known as c.94A>G), located in coding exon 3 of the SDHC gene, results from an A to G substitution at nucleotide position 94. The threonine at codon 32 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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