ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1678C>T (p.Pro560Ser)

gnomAD frequency: 0.00002  dbSNP: rs748852160
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204252 SCV000260407 uncertain significance Multiple endocrine neoplasia, type 2 2023-12-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 560 of the RET protein (p.Pro560Ser). This variant is present in population databases (rs748852160, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with RET-related conditions. ClinVar contains an entry for this variant (Variation ID: 220113). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Mendelics RCV003491956 SCV000838388 likely benign Hereditary cancer 2024-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399762 SCV002712804 uncertain significance Hereditary cancer-predisposing syndrome 2020-07-07 criteria provided, single submitter clinical testing The p.P560S variant (also known as c.1678C>T), located in coding exon 9 of the RET gene, results from a C to T substitution at nucleotide position 1678. The proline at codon 560 is replaced by serine, 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.

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