ClinVar Miner

Submissions for variant NM_058172.6(ANTXR2):c.770dup (p.Tyr257Ter)

dbSNP: rs1578172709
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research RCV001004058 SCV001147063 likely pathogenic Hyaline fibromatosis syndrome 2019-09-24 criteria provided, single submitter clinical testing A single base pair duplication in exon 9 of the ANTXR2 gene (chr4:g.80954652dupT; Depth: 57x) that results in a stop codon and premature truncation of the protein at codon 257 (p.Tyr257Ter; ENST00000307333.7) was detected. This ANTXR2 variant has not been reported in the 1000 Genomes, ExAC and our internal databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across species.

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