ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10967G>A (p.Gly3656Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003486369 SCV004238575 uncertain significance Alstrom syndrome 2023-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004741506 SCV005365659 uncertain significance ALMS1-related disorder 2024-04-24 no assertion criteria provided clinical testing The ALMS1 c.10970G>A variant is predicted to result in the amino acid substitution p.Arg3657Gln. 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. 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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