ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1835C>T (p.Ala612Val)

dbSNP: rs1580603927
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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 RCV001013330 SCV001173906 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-16 criteria provided, single submitter clinical testing The p.A612V variant (also known as c.1835C>T), located in coding exon 14 of the APC gene, results from a C to T substitution at nucleotide position 1835. The alanine at codon 612 is replaced by valine, an amino acid with 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.
Baylor Genetics RCV003461331 SCV004204719 uncertain significance Familial adenomatous polyposis 1 2023-06-25 criteria provided, single submitter clinical testing

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