ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7033C>T (p.Arg2345Trp) (rs776611154)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071358 SCV001236656 uncertain significance Alstrom syndrome 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 2346 of the ALMS1 protein (p.Arg2346Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs776611154, ExAC 0.01%). This variant has not been reported in the literature in individuals with ALMS1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV001544769 SCV001763967 uncertain significance not provided 2020-01-23 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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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