ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.6149G>A (p.Arg2050Gln)

gnomAD frequency: 0.00002  dbSNP: rs782428636
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624636 SCV000742542 uncertain significance Inborn genetic diseases 2017-05-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002233902 SCV002511896 uncertain significance not specified 2022-04-14 criteria provided, single submitter clinical testing Variant summary: HUWE1 c.6149G>A (p.Arg2050Gln) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.9e-05 in 205237 control chromosomes, including one hemizygote (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.6149G>A in individuals affected with Intellectual Disability, X-Linked Syndromic, Turner Type and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as of uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003718271 SCV004506846 likely benign not provided 2022-12-05 criteria provided, single submitter clinical testing

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