ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs)

dbSNP: rs1553404426
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668356 SCV000792940 likely pathogenic Alstrom syndrome 2017-08-02 criteria provided, single submitter clinical testing
Invitae RCV000668356 SCV003320627 pathogenic Alstrom syndrome 2023-09-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2414Lysfs*2) 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 variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 552995). For these reasons, this variant has been classified as Pathogenic.

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