ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.785GGC[3] (p.Arg263dup)

dbSNP: rs1554709431
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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 RCV000586063 SCV000695703 uncertain significance not provided 2017-03-16 criteria provided, single submitter clinical testing Variant summary: The GALT c.788_790dupGGC (p.Arg263dup) variant involves the insertion of three nucleotides resulting in an in-frame insertion of Arginine. One in silico tool predicts a benign outcome for this variant. This variant is absent in 121334 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic 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 is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Natera, Inc. RCV001829615 SCV002085238 uncertain significance Galactosemia 2020-09-25 no assertion criteria provided clinical testing

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