ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) (rs199615803)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664923 SCV000788956 uncertain significance Alstrom syndrome 2017-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000664923 SCV000897044 uncertain significance Alstrom syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000664923 SCV001416452 uncertain significance Alstrom syndrome 2020-10-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1418 of the ALMS1 protein (p.Arg1418Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs199615803, ExAC 0.2%). This variant has not been reported in the literature in individuals with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 550230). 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: Deleterious; Align-GVGD: Class 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 RCV001558843 SCV001780871 uncertain significance not provided 2021-02-11 criteria provided, single submitter clinical testing 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
Nilou-Genome Lab RCV000664923 SCV001781467 uncertain significance Alstrom syndrome 2021-07-14 criteria provided, single submitter clinical testing

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