ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu) (rs367877017)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481575 SCV000573537 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing The S3736L variant has not beenpublished as pathogenic or been reported as benign to our knowledge. It is not observed at a significant frequency inlarge population cohorts, and no homozygous individuals have been reported (Lek et al., 2016; 1000 GenomesConsortium et al., 2015; Exome Variant Server). In addition, the S3736L variant is a non-conservative amino acidsubstitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, sizeand/or other properties. However, this substitution occurs at a position that is not conserved across species, and insilico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the proteinstructure/function. Lastly, while some missense variants have been reported in association with Alstrom syndrome,most pathogenic variants in ALMS1 reported to date are predicted to cause premature protein truncation (Marshall etal., 2012; Stenson et al., 2014).
Counsyl RCV000665718 SCV000789882 uncertain significance Alstrom syndrome 2017-02-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000665718 SCV001459600 uncertain significance Alstrom syndrome 2020-04-23 no assertion criteria provided clinical testing

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