ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2693A>T (p.Asp898Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003463508 SCV004208716 uncertain significance Hirschsprung disease, susceptibility to, 1 2023-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004661663 SCV005159081 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-09 criteria provided, single submitter clinical testing The p.D898V variant (also known as c.2693A>T), located in coding exon 15 of the RET gene, results from an A to T substitution at nucleotide position 2693. The aspartic acid at codon 898 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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