ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr) (rs201028172)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434442 SCV000533350 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000548287 SCV000631757 uncertain significance Alstrom syndrome 2019-03-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with threonine at codon 3805 of the ALMS1 protein (p.Arg3805Thr). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and threonine. This variant is present in population databases (rs201028172, ExAC 0.05%) but has not been reported in the literature in individuals with a ALMS1-related disease. ClinVar contains an entry for this variant (Variation ID: 390504). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000548287 SCV000897048 uncertain significance Alstrom syndrome 2018-10-31 criteria provided, single submitter clinical testing

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