ClinVar Miner

Submissions for variant NM_000065.5(C6):c.828del (p.Ser277fs)

dbSNP: rs372345940
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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 RCV002512997 SCV003525912 pathogenic not provided 2023-02-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 12115). This premature translational stop signal has been observed in individual(s) with C6 deficiency (PMID: 9856498). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser277Alafs*43) 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).
OMIM RCV000012898 SCV000033139 pathogenic Complement component 6 deficiency 2022-04-30 no assertion criteria provided literature only

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