ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1538C>T (p.Ala513Val)

dbSNP: rs149238501
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000230991 SCV000290532 uncertain significance Multiple endocrine neoplasia, type 2 2024-12-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 513 of the RET protein (p.Ala513Val). This variant is not present in population databases (gnomAD no frequency). 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: 241338). 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.
Counsyl RCV000662955 SCV000785923 uncertain significance Multiple endocrine neoplasia type 2A 2018-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012091 SCV001172503 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-01 criteria provided, single submitter clinical testing The p.A513V variant (also known as c.1538C>T), located in coding exon 8 of the RET gene, results from a C to T substitution at nucleotide position 1538. The alanine at codon 513 is replaced by valine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Myriad Genetics, Inc. RCV000662955 SCV004018060 uncertain significance Multiple endocrine neoplasia type 2A 2023-04-17 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
Fulgent Genetics, Fulgent Genetics RCV005044480 SCV005674340 uncertain significance Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2024-01-17 criteria provided, single submitter clinical testing

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