ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.110G>A (p.Arg37His) (rs866539724)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522808 SCV000619215 uncertain significance not provided 2017-07-26 criteria provided, single submitter clinical testing The R37H variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Reliable data is not available in large population cohorts to assess the frequency of this variant in publicly available databases; however, this variant is observed in 5/76088 (0.007%) alleles from individuals undergoing testing at GeneDx, although it is not observed in the homozygous state. The R37H 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. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R37H as a variant of uncertain significance.

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