ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1174C>A (p.Arg392Ser) (rs3813227)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634790 SCV000756133 uncertain significance Alstrom syndrome 2020-10-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 393 of the ALMS1 protein (p.Arg393Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs3813227, ExAC 0.06%). This variant has not been reported in the literature in individuals with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 529379). 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 RCV001584463 SCV001811992 uncertain significance not provided 2021-05-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported as a variant of uncertain significance by one other clinical laboratory in ClinVar but additional evidence is not available (ClinVar Variant ID# 529379; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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