ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.1048del (p.Thr350fs) (rs775762045)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409590 SCV000486307 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2016-05-06 criteria provided, single submitter clinical testing
Invitae RCV000409590 SCV000755883 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-11-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GALT gene (p.Thr350Profs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acids of the GALT protein. This variant is present in population databases (rs775762045, ExAC 0.006%). This variant has not been reported in the literature in individuals with GALT-related disease. ClinVar contains an entry for this variant (Variation ID: 370881). A missense substitution (p.Thr350Ala) that lies downstream of this variant has been determined to be likely pathogenic (PMID: 8741038, 11152465). This suggests that deletion of this region of the GALT protein is causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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