ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4606G>T (p.Val1536Leu)

dbSNP: rs764832688
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489239 SCV000577232 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing The V1536L variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V1536L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V1536L 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 where amino acids with similar properties to Valine are tolerated across species. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret V1536L as a variant of uncertain significance.
Natera, Inc. RCV001834590 SCV002086273 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-01-19 no assertion criteria provided clinical testing

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