ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.10303delinsGA (p.Gln3435fs) (rs1060500034)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459403 SCV000541332 pathogenic Alstrom syndrome 2016-10-09 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 15 of the ALMS1 mRNA (c.10303delinsGA), causing a frameshift at codon 3435. This creates a premature translational stop signal (p.Gln3435Glufs*7) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, 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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