ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.18del (p.Asp7fs)

dbSNP: rs111033638
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022039 SCV000485958 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2016-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000022039 SCV002231605 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2022-10-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 25113). This variant is also known as T6fsdelC. This premature translational stop signal has been observed in individual(s) with clinical features of galactose-1-phosphate uridylyltransferase deficiency (PMID: 15775761). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp7Ilefs*43) 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).
Baylor Genetics RCV000022039 SCV004198495 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-10-24 criteria provided, single submitter clinical testing

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