ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.8171C>A (p.Ser2724Tyr) (rs368409205)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486873 SCV000573255 uncertain significance not provided 2017-02-14 criteria provided, single submitter clinical testing The S2724Y variant of uncertain significance in the ALMS1 gene has not been published as pathogenic or benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S2724Y variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution also occurs at a position that is conserved in mammals. Nevertheless, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Furthemore, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with Alstrom syndrome (Stenson et al., 2014).Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Counsyl RCV000665532 SCV000789672 uncertain significance Alstrom syndrome 2017-02-09 criteria provided, single submitter clinical testing

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