ClinVar Miner

Submissions for variant NM_004482.4(GALNT3):c.1696C>T (p.Gln566Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002643794 SCV003509861 pathogenic not provided 2024-08-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln566*) in the GALNT3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALNT3 are known to be pathogenic (PMID: 15133511, 20358599). This variant is present in population databases (rs571016917, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with GALNT3-related conditions. ClinVar contains an entry for this variant (Variation ID: 2192673). For these reasons, this variant has been classified as Pathogenic.
Eurofins-Biomnis RCV003236597 SCV003935134 likely pathogenic Tumoral calcinosis, hyperphosphatemic, familial, 1 2022-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003236597 SCV005652088 likely pathogenic Tumoral calcinosis, hyperphosphatemic, familial, 1 2024-05-08 criteria provided, single submitter clinical testing

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