ClinVar Miner

Submissions for variant NM_003001.3(SDHC):c.197C>T (p.Ala66Val) (rs760572684)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410077 SCV000488602 uncertain significance Paragangliomas 3 2016-05-09 criteria provided, single submitter clinical testing
Invitae RCV000529986 SCV000641428 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 3 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 66 of the SDHC protein (p.Ala66Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs760572684, ExAC 0.004%). This variant has been reported in an individual affected with Cowden Syndrome-like disorder (CSL) (PMID: 21979946). ClinVar contains an entry for this variant (Variation ID: 371843). 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 valine 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. 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.

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