ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4175A>G (p.Tyr1392Cys)

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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 RCV003141333 SCV003826176 uncertain significance Alstrom syndrome 2021-11-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003427696 SCV004117609 uncertain significance ALMS1-related disorder 2022-11-07 criteria provided, single submitter clinical testing The ALMS1 c.4178A>G variant is predicted to result in the amino acid substitution p.Gln1393Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-73677835-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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