ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12038G>A (p.Gly4013Asp)

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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 RCV003141335 SCV003826178 uncertain significance Alstrom syndrome 2020-09-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003936709 SCV004750037 uncertain significance ALMS1-related disorder 2024-02-23 criteria provided, single submitter clinical testing The ALMS1 c.12041G>A variant is predicted to result in the amino acid substitution p.Gly4014Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.039% of alleles in individuals of European (Non-Finnish) 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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