ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu) (rs370406004)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246472 SCV001419830 uncertain significance Alstrom syndrome 2019-09-11 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 1392 of the ALMS1 protein (p.Phe1392Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs370406004, ExAC 0.01%). 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: "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 RCV001773561 SCV002004043 uncertain significance not provided 2021-10-21 criteria provided, single submitter clinical testing Not observed at significant frequency 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

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