ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5827C>A (p.Arg1943Ser) (rs370398704)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498239 SCV000590483 uncertain significance not provided 2020-11-09 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001370621 SCV001567142 uncertain significance Alstrom syndrome 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 1944 of the ALMS1 protein (p.Arg1944Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine. 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. ClinVar contains an entry for this variant (Variation ID: 432728). 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.

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