ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.268G>C (p.Asp90His)

gnomAD frequency: 0.00002  dbSNP: rs201330799
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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 RCV000586397 SCV000695686 uncertain significance not provided 2016-02-19 criteria provided, single submitter clinical testing Variant summary: The GALT c.268G>C variant affects a non-conserved nucleotide, resulting in amino acid change from Asp to His. 2/4 in-silico tools predict this variant to be benign (SNPs&GO not captured due to low reliability index). This variant is found in 2/121412 control chromosomes at a frequency of 0.0000165, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0028868). The variant of interest has not, to our knowledge, 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.
Natera, Inc. RCV001834833 SCV002085190 uncertain significance Galactosemia 2017-05-09 no assertion criteria provided clinical testing

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