ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) (rs746702722)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465433 SCV000541324 uncertain significance Alstrom syndrome 2016-10-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 3441 of the ALMS1 protein (p.Arg3441Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs746702722, ExAC 0.05%) but has not been reported in the literature in individuals with a ALMS1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000465433 SCV000789273 uncertain significance Alstrom syndrome 2017-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001539961 SCV001757789 likely benign not provided 2018-11-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000465433 SCV001465809 benign Alstrom syndrome 2020-11-10 no assertion criteria provided clinical testing

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