ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.664-39_664-36delinsGC (rs386799751)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153945 SCV000203563 benign not specified 2017-02-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000153945 SCV000918205 benign not specified 2017-09-21 criteria provided, single submitter clinical testing Variant summary: The SGSH c.664-39_664-36delinsGC variant involves the deletion of four and insertion of two intronic nucleotides. One in silico tool predicts a benign outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1744/5008 control chromosomes (including 356 homozygotes) at a frequency of 0.3482428, which is approximately 108 times the estimated maximal expected allele frequency of a pathogenic SGSH variant (0.0032275), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic laboratory/reputable database classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

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