ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.238A>C (p.Lys80Gln) (rs775532257)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588537 SCV000699357 uncertain significance not provided 2017-03-28 criteria provided, single submitter clinical testing Variant summary: The VCL c.238A>C (p.Lys80Gln) variant involves the alteration of a conserved nucleotide that 2/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2/121158 (1/60579), which does not exceed the estimated maximal expected allele frequency for a pathogenic VCL variant of 1/40000. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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