ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.37C>T (p.Arg13Ter)

dbSNP: rs534362264
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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 RCV001886939 SCV002167413 pathogenic not provided 2022-02-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg13*) in the CARMIL2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CARMIL2 are known to be pathogenic (PMID: 27647349, 28112205). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CARMIL2-related conditions.

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