ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3673G>A (p.Asp1225Asn)

dbSNP: rs1057519696
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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 RCV002450958 SCV002615735 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-09 criteria provided, single submitter clinical testing The p.D1225N variant (also known as c.3673G>A), located in coding exon 24 of the ALK gene, results from a G to A substitution at nucleotide position 3673. The aspartic acid at codon 1225 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Database of Curated Mutations (DoCM) RCV000433441 SCV000503775 pathogenic Rhabdomyosarcoma 2014-10-02 no assertion criteria provided literature only

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