ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs)

dbSNP: rs1553403851
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666481 SCV000790784 likely pathogenic Alstrom syndrome 2017-04-25 criteria provided, single submitter clinical testing
GeneDx RCV002275098 SCV002562386 pathogenic not provided 2022-08-11 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29588463)
Fulgent Genetics, Fulgent Genetics RCV000666481 SCV002792795 pathogenic Alstrom syndrome 2022-05-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666481 SCV004540319 pathogenic Alstrom syndrome 2023-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1418Glyfs*55) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Alström syndrome (PMID: 29588463). ClinVar contains an entry for this variant (Variation ID: 551424). For these reasons, this variant has been classified as Pathogenic.

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