ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.123_124delinsCA (p.Val42Ile) (rs1670514979)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239866 SCV001412768 uncertain significance Alstrom syndrome 2019-03-11 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 43 of the ALMS1 protein (p.Val43Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ALMS1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001751474 SCV001988365 uncertain significance not provided 2019-01-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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