ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.146A>G (p.Asn49Ser)

dbSNP: rs1571851610
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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 RCV000807849 SCV000947925 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2018-07-28 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SDHC-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 49 of the SDHC protein (p.Asn49Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine.
Baylor Genetics RCV004569647 SCV005056656 uncertain significance Gastrointestinal stromal tumor 2024-03-13 criteria provided, single submitter clinical testing

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