ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.912dup (p.Thr305fs)

dbSNP: rs746285782
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409549 SCV000486367 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2016-05-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409549 SCV002158355 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-12-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GALT protein in which other variant(s) (p.Pro351Leufs*8) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 370932). This variant has not been reported in the literature in individuals affected with GALT-related conditions. This variant is present in population databases (rs746285782, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Thr305Hisfs*48) in the GALT gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 75 amino acid(s) of the GALT protein.

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