Submissions for variant NM_000155.4(GALT):c.502_504del (p.Val168del)

dbSNP: rs1219976432

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001239116	SCV001411966	uncertain significance	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2021-08-28	criteria provided, single submitter	clinical testing	This variant, c.502_504del, results in the deletion of 1 amino acid(s) of the GALT protein (p.Val168del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with a positive newborn screening result for GALT-related disease (Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001553676	SCV001774625	uncertain significance	not specified	2021-07-13	criteria provided, single submitter	clinical testing	Variant summary: GALT c.502_504delGTG (p.Val168del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant was absent in 31402 control chromosomes (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.502_504delGTG in individuals affected with Galactosemia and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc.	RCV001836200	SCV002085212	uncertain significance	Galactosemia	2020-01-08	no assertion criteria provided	clinical testing