ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.1009T>C (p.Cys337Arg) (rs746923506)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203691 SCV000261515 uncertain significance Alstrom syndrome 2015-11-25 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 337 of the ALMS1 protein (p.Cys337Arg). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (ExAC 0.01%) but has not been reported in the literature. 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: "Benign"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Counsyl RCV000203691 SCV000789088 uncertain significance Alstrom syndrome 2017-01-05 criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000786092 SCV000924729 uncertain significance not provided 2016-02-17 no assertion criteria provided provider interpretation

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