ClinVar Miner

Submissions for variant NM_004481.5(GALNT2):c.526G>C (p.Asp176His)

dbSNP: rs2102736154
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002300599 SCV002588099 uncertain significance not provided 2022-10-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV001825286 SCV002075113 not provided Congenital disorder of glycosylation, type iit no assertion provided phenotyping only Variant interpreted as Likely pathogenic and reported on 12-02-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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