ClinVar Miner

Submissions for variant NM_000063.6(C2):c.1102C>T (p.Arg368Ter)

dbSNP: rs866130958
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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 RCV000722192 SCV004536009 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg368*) in the C2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in C2 are known to be pathogenic (PMID: 1577763, 9616367). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with C2-related conditions. ClinVar contains an entry for this variant (Variation ID: 591016). For these reasons, this variant has been classified as Pathogenic.
Gharavi Laboratory, Columbia University RCV000722192 SCV000853323 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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