ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.10172C>T (p.Ala3391Val) (rs905527689)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424955 SCV000532986 uncertain significance not provided 2017-08-25 criteria provided, single submitter clinical testing The A3391V variant of uncertain significance in the ALMS1 gene has not been published as a pathogenic variant, norhas it been reported as a benign variant to our knowledge. A3391V was not observed in approximately 6,000individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, nor was it observedin the Exome Aggregation Consortium (ExAC), indicating it is not a common benign variant in these populations.However, the A3391V variant is a conservative amino acid substitution, which is not likely to impact secondaryprotein structure as these residues share similar properties. Moreover, this substitution occurs at a position that is notconserved, where V3391 is present in at least two species. Nevertheless, in silico analysis is inconsistent in itspredictions as to whether or not the variant is damaging to the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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