ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.1A>C (p.Met1Leu)

dbSNP: rs1259048855
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004030362 SCV001174656 uncertain significance not specified 2023-11-22 criteria provided, single submitter clinical testing The p.M1? variant (also known as c.1A>C) is located in coding exon 1 of the GALNT12 gene and results from an A to C substitution at nucleotide position 1.This alters the methionine residue at the initiation codon (ATG). The c.1A>C alteration is expected to modify the initiation codon (ATG) resulting in either loss of translation initiation, N-terminal truncation, or cause a shift in the mRNA reading frame. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001860753 SCV002010993 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860753 SCV002160888 uncertain significance not provided 2021-06-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with GALNT12-related conditions. ClinVar contains an entry for this variant (Variation ID: 820494). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that disruption of the initiator codon affects GALNT12 protein function (PMID: 19617566). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change affects the initiator methionine of the GALNT12 mRNA. The next in-frame methionine is located at codon 65.
Fulgent Genetics, Fulgent Genetics RCV005049729 SCV005677621 uncertain significance Colorectal cancer, susceptibility to, 1 2024-03-28 criteria provided, single submitter clinical testing

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