ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs) (rs754702823)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672346 SCV000797444 likely pathogenic Alstrom syndrome 2018-01-25 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074098 SCV001239667 pathogenic Retinal dystrophy 2018-12-29 criteria provided, single submitter clinical testing
Invitae RCV000672346 SCV001580185 pathogenic Alstrom syndrome 2020-06-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser3301Leufs*7) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with clinical features of Alstrom syndrome (PMID: 25846608, 31810438). It is also known as c.9894dupC in the literature. ClinVar contains an entry for this variant (Variation ID: 556350). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.

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