ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu) (rs200368564)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421757 SCV000535825 uncertain significance not provided 2017-01-11 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ALMS1 gene. The V2122L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, the V2122L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species and where leucine is the wild type in the rabbit. Finally, in silico analysis predicts this variant likely does not alter the protein structure/function.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445488 SCV000536978 likely benign Monogenic diabetes 2015-03-20 criteria provided, single submitter research
Natera, Inc. RCV001272958 SCV001455462 uncertain significance Alstrom syndrome 2020-01-17 no assertion criteria provided clinical testing

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