ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.628C>T (p.Arg210Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004053498 SCV002660940 uncertain significance not specified 2024-02-26 criteria provided, single submitter clinical testing The p.R210* variant (also known as c.628C>T), located in coding exon 3 of the GALNT12 gene, results from a C to T substitution at nucleotide position 628. This changes the amino acid from an arginine to a stop codon within coding exon 3. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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