ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: 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 2023-05-31 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: 556350). This variant is also known as c.9894dupC. This premature translational stop signal has been observed in individual(s) with clinical features of Alstrom syndrome (PMID: 25846608, 31810438). This variant is present in population databases (rs754702823, gnomAD 0.002%). 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. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715).

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