ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9538C>T (p.Arg3180Ter)

dbSNP: rs563393715
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707419 SCV000836517 pathogenic Alstrom syndrome 2022-07-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. ClinVar contains an entry for this variant (Variation ID: 583154). This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 17594715). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg3181*) 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).
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000707419 SCV001432512 pathogenic Alstrom syndrome no assertion criteria provided research

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