ClinVar Miner

Submissions for variant NM_000038.6(APC):c.628A>G (p.Met210Val)

dbSNP: rs876659938
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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 RCV000213400 SCV000276907 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-25 criteria provided, single submitter clinical testing The p.M210V variant (also known as c.628A>G), located in coding exon 5 of the APC gene, results from an A to G substitution at nucleotide position 628. The methionine at codon 210 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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