ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.6902T>C (p.Val2301Ala) (rs1057523384)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429624 SCV000531744 uncertain significance not provided 2016-09-23 criteria provided, single submitter clinical testing The V2301A variant in the ALMS1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed in approximately 5900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The V2301A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties, and occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V2301A as a variant of uncertain significance.

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