ClinVar Miner

Submissions for variant NM_139125.4(MASP1):c.812dup (p.Ser272fs)

dbSNP: rs1560255926
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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 RCV000694001 SCV000822425 pathogenic 3MC syndrome 1 2017-04-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MASP1 are known to be pathogenic (PMID: 21035106). This variant has not been reported in the literature in individuals with a MASP1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser272Glufs*10) in the MASP1 gene. It is expected to result in an absent or disrupted protein product.

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