ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4144_4147del (p.Ser1382fs)

dbSNP: rs2103781518
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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 RCV001384451 SCV001583949 pathogenic Alstrom syndrome 2023-06-11 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Alstrom syndrom (PMID: 28432734). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1383Asnfs*19) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). ClinVar contains an entry for this variant (Variation ID: 1071882). For these reasons, this variant has been classified as Pathogenic.

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