ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.143C>T (p.Ser48Leu)

dbSNP: rs1362354860
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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 RCV001896574 SCV002168774 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2022-05-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SDHC-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 48 of the SDHC protein (p.Ser48Leu).

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