ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6587del (p.Lys2196fs)

dbSNP: rs1553404283
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673886 SCV000799139 pathogenic Alstrom syndrome 2018-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673886 SCV000935937 pathogenic Alstrom syndrome 2023-09-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with Alstrom Syndrome (PMID: 16720663, 24462884). ClinVar contains an entry for this variant (Variation ID: 557712). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Lys2197Serfs*10) 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).

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