ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11737G>C (p.Asp3913His) (rs746782589)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494097 SCV000582594 uncertain significance not provided 2017-05-16 criteria provided, single submitter clinical testing The D3913H variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D3913H variant is observed in 6/11570 (0.052%) alleles from individuals of Latino background, in the ExAC dataset (Lek et al., 2016). The D3913H 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. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret D3913H as a variant of uncertain significance.

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