ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.*10_*11delinsGT

dbSNP: rs71623163
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780769 SCV000918297 benign not specified 2017-12-29 criteria provided, single submitter clinical testing Variant summary: The SUMF1 c.*10_*11delinsGT variant involves the alteration of two non-conserved nucleotides in 3'-UTR. One in silico tool predicts a benign outcome for this variant. The variant of interest has been commonly reported as two independent variants, c.*10A>G and c.*11A>T. Both independent variants have been reported in the large, broad control population, gnomAD: c.*10A>G in 135966/274896 controls chromosomes (0.4946) and c.*11A>T in 173567/275008 control chromsomes (0.6311). Both frequencies are significantly higher than the estimated maximal expected allele frequency of a pathogenic SUMF1 variant (0.001118), suggesting the variant of interest is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories have cited each variant independent with classifications of "benign." Taken together, this variant is classified as benign.
Mayo Clinic Laboratories, Mayo Clinic RCV000675754 SCV000801474 likely benign not provided 2015-10-22 no assertion criteria provided clinical testing

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