ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.211C>G (p.Leu71Val)

dbSNP: rs143994870
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Total submissions: 4
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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 RCV000586020 SCV000695683 uncertain significance not provided 2016-02-19 criteria provided, single submitter clinical testing Variant summary: c.211C>G affects a non-conserved nucleotide, resulting in amino acid change from Leu to Val. 4/4 in-silico tools predict this variant to be benign (SNPs&GO not captured due to low reliability index). This variant was not found in 121178 control chromosomes. The variant of interest has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Eurofins Ntd Llc (ga) RCV000586020 SCV000702084 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000586020 SCV004224248 uncertain significance not provided 2022-09-02 criteria provided, single submitter clinical testing BP2, PM2
Natera, Inc. RCV001834832 SCV002085185 uncertain significance Galactosemia 2018-09-21 no assertion criteria provided clinical testing

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