ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.1A>T (p.Met1Leu)

dbSNP: rs755235380
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809572 SCV000949727 pathogenic Gastrointestinal stromal tumor; Paragangliomas 3 2023-12-26 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. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individuals with SDHC-related conditions (PMID: 11062460, 16249420, 19351833, 19454582, 22351710, 22517554, 23282968, 29386252). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 653751). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004028671 SCV004933709 pathogenic Paragangliomas 3 2023-12-12 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant is located within the gene translation start codon (p.Met1?) and is predicted to result in abnormal protein translation. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 30201732, 30877234, 16249420, 11062460, 25720320].

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