ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.513del (p.Phe171fs)

dbSNP: rs886044409
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000338209 SCV000344800 pathogenic not provided 2016-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859713 SCV002108461 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2022-04-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe171Leufs*7) in the GALT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GALT-related conditions. ClinVar contains an entry for this variant (Variation ID: 290279). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001859713 SCV004198563 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-12-06 criteria provided, single submitter clinical testing

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