ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5431A>T (p.Lys1811Ter)

dbSNP: rs1085307587
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490163 SCV000576780 likely pathogenic not provided 2017-04-19 criteria provided, single submitter clinical testing The K1811X variant in the SACS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The K1811X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret K1811X as a likely pathogenic variant.

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