ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.8114C>T (p.Ser2705Phe) (rs761272792)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443616 SCV000532478 uncertain significance not provided 2016-10-07 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ALMS1 gene. The S2705F variant has not been published as a pathogenic variant or 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 or with any significant frequency in the Exome Aggregation Consortium (ExAC), indicating it is not a common benign variant in these populations. The S2705F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Nevertheless, this substitution occurs at a position not conserved across species. Furthermore, in silico analysis predicts this variant likely does not alter 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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