ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5908A>C (p.Ser1970Arg)

dbSNP: rs1561603616
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000679073 SCV000805444 uncertain significance not provided 2017-12-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777080 SCV000912763 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-19 criteria provided, single submitter clinical testing
Invitae RCV003534548 SCV001388592 uncertain significance Familial adenomatous polyposis 1 2023-11-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 1970 of the APC protein (p.Ser1970Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with adenomatous polyps (PMID: 9669663). This variant is also known as 5911A>C. ClinVar contains an entry for this variant (Variation ID: 560746). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt APC protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000777080 SCV002649557 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-20 criteria provided, single submitter clinical testing The p.S1970R variant (also known as c.5908A>C), located in coding exon 15 of the APC gene, results from an A to C substitution at nucleotide position 5908. The serine at codon 1970 is replaced by arginine, an amino acid with dissimilar 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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