ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.12392A>G (p.Gln4131Arg) (rs371587051)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444448 SCV000535810 uncertain significance not provided 2017-01-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ALMS1 gene. The Q4131R 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 with any significant frequency in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The Q4131R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved across species and where Arginine is present as the wild type in multiple species. In silico analysis suggests that this variant likely does not alter the protein structure/function.
Counsyl RCV000668780 SCV000793434 uncertain significance Alstrom syndrome 2017-08-16 criteria provided, single submitter clinical testing

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