ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.47C>T (p.Ala16Val)

gnomAD frequency: 0.00001  dbSNP: rs1558164567
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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 RCV000699024 SCV000827718 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2022-11-07 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 576513). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 16 of the SDHC protein (p.Ala16Val).
Baylor Genetics RCV003472228 SCV004203083 uncertain significance Gastrointestinal stromal tumor 2022-03-23 criteria provided, single submitter clinical testing

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