ClinVar Miner

Submissions for variant NM_000065.5(C6):c.1066C>T (p.Arg356Ter)

gnomAD frequency: 0.00002  dbSNP: rs751375135
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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 RCV003675085 SCV004391025 pathogenic not provided 2023-08-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with C6-related conditions. This variant is present in population databases (rs751375135, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg356*) 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).

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