ClinVar Miner

Submissions for variant NM_001497.4(B4GALT1):c.259C>T (p.Pro87Ser)

gnomAD frequency: 0.00166  dbSNP: rs149181384
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892920 SCV001036827 likely benign not provided 2024-12-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501476 SCV002801746 likely benign B4GALT1-congenital disorder of glycosylation 2021-12-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317397 SCV004020844 uncertain significance not specified 2023-06-07 criteria provided, single submitter clinical testing Variant summary: B4GALT1 c.259C>T (p.Pro87Ser) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00028 in 186338 control chromosomes, with increased frequency in populations of African descent (0.0044 in 10762 control chromosomes). To our knowledge, no occurrence of c.259C>T in individuals affected with B4GALT1-CDG and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Breakthrough Genomics, Breakthrough Genomics RCV000892920 SCV005224146 likely benign not provided criteria provided, single submitter not provided

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