ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter)

dbSNP: rs1315351235
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075165 SCV001240777 pathogenic Retinal dystrophy 2018-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001217468 SCV001389310 pathogenic Alstrom syndrome 2023-03-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 866836). This premature translational stop signal has been observed in individual(s) with Alström syndrome (PMID: 17594715). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Arg2512*) 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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