ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5162G>T (p.Gly1721Val)

dbSNP: rs876660114
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773927 SCV000907627 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000773927 SCV002644901 uncertain significance Hereditary cancer-predisposing syndrome 2021-02-26 criteria provided, single submitter clinical testing The p.G1721V variant (also known as c.5162G>T), located in coding exon 15 of the APC gene, results from a G to T substitution at nucleotide position 5162. The glycine at codon 1721 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is well 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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