ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer)

dbSNP: rs1225343345
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665351 SCV000789460 pathogenic Alstrom syndrome 2017-02-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074117 SCV001239686 pathogenic Retinal dystrophy 2019-01-15 criteria provided, single submitter clinical testing
Invitae RCV000665351 SCV002242895 pathogenic Alstrom syndrome 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp2459*) 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 present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 17594715). ClinVar contains an entry for this variant (Variation ID: 550572). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002285396 SCV002575642 pathogenic not provided 2022-04-07 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21157496, 17594715)
Fulgent Genetics, Fulgent Genetics RCV000665351 SCV002802005 pathogenic Alstrom syndrome 2021-09-16 criteria provided, single submitter clinical testing

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