ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.254_274del (p.Gln85_Leu91del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004062152 SCV002742463 uncertain significance not specified 2022-06-02 criteria provided, single submitter clinical testing The c.254_274del21 variant (also known as p.Q85_L91del) is located in coding exon 1 of the GALNT12 gene. This variant results from an in-frame deletion of 21 nucleotides at nucleotide positions 254 to 274. This results in the in-frame deletion of 7 amino acids (QLQGEEL) at codons 85 to 91. This amino acid region is generally well conserved in available vertebrate species. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Baylor Genetics RCV004571149 SCV005058823 uncertain significance Colorectal cancer, susceptibility to, 1 2024-01-23 criteria provided, single submitter clinical testing

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