ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5120A>T (p.Gln1707Leu) (rs768870428)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756045 SCV000883755 uncertain significance not provided 2018-01-03 criteria provided, single submitter clinical testing The p.Gln1707Leu variant has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) identified on a single chromosome out of 30,986. The glutamine at position 1707 is highly conserved up to zebrafish considering 12 species (Alamut v2.10), and computational analyses of the effects of the p.Gln1707Leu variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, Align GVGD: Class C25). Altogether, there is not enough evidence to classify the p.Gln1707Leu variant with certainty.

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