ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3121_3125del (p.Glu1041fs)

dbSNP: rs1671885188
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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 RCV001227215 SCV001399565 pathogenic Alstrom syndrome 2019-09-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1042Thrfs*6) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ALMS1-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715).

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