ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.640G>A (p.Glu214Lys) (rs1227959449)

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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 RCV000781463 SCV000919500 uncertain significance not specified 2017-12-14 criteria provided, single submitter clinical testing Variant summary: The HEXA c.640G>A (p.Glu214Lys) variant is located in the Glycoside hydrolase family 20, catalytic domain (IPR015883) (InterPro) and involves the alteration of a conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. This variant was found in 1/30984 control chromosomes (gnomAD) at a frequency of 0.0000323, which does not exceed the estimated maximal expected allele frequency of a pathogenic HEXA variant (0.0013975). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/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).

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