ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10826A>G (p.Gln3609Arg)

dbSNP: rs886056317
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000291848 SCV000431934 uncertain significance Alstrom syndrome 2016-06-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000291848 SCV003826174 uncertain significance Alstrom syndrome 2022-03-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003392209 SCV004119550 uncertain significance ALMS1-related disorder 2023-09-01 criteria provided, single submitter clinical testing The ALMS1 c.10829A>G variant is predicted to result in the amino acid substitution p.Gln3610Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.039% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-73799836-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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