ClinVar Miner

Submissions for variant NM_003001.3(SDHC):c.1A>T (p.Met1Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809572 SCV000949727 likely pathogenic Gastrointestinal stroma tumor; Paragangliomas 3 2018-07-24 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the SDHC mRNA. The next in-frame methionine is located at codon 38. It is not known if this variant results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SDHC-related disease. Variants that disrupt the p.Met1 amino acid residue in SDHC have been observed in multiple affected individuals (PMID: 19454582, 22517554, 23282968, 16249420, 19351833, 11062460, 22351710). This suggests that it is a clinically significant residue, and that other variants that disrupt this residue are likely to be causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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