ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.719C>T (p.Pro240Leu)

gnomAD frequency: 0.00016  dbSNP: rs59362219
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463956 SCV000551406 benign not provided 2023-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022800 SCV000673515 likely benign not specified 2020-03-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ACT Genomics, RCV001265633 SCV001443777 likely benign Breast neoplasm 2020-11-06 criteria provided, single submitter clinical testing The allele frequency of this variant c.719C>T (p.Pro240Leu) is 0.0083 in East Asian of gnomAD and 0.011 in East Asian in 1000 Genomes. For the reason, this variant has been classified as Likely Benign.
PreventionGenetics, part of Exact Sciences RCV003970287 SCV004788198 benign GALNT12-related disorder 2020-05-15 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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