ClinVar Miner

Submissions for variant NM_000065.5(C6):c.901C>T (p.Gln301Ter)

dbSNP: rs75870538
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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 RCV002649785 SCV002971056 pathogenic not provided 2024-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln301*) in the C6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in C6 are known to be pathogenic (PMID: 17257682). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with C6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1933917). For these reasons, this variant has been classified as Pathogenic.

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