ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1478C>T (p.Pro493Leu)

gnomAD frequency: 0.00001  dbSNP: rs766604600
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525912 SCV000628054 likely benign Multiple endocrine neoplasia, type 1 2024-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011715 SCV001172070 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-02 criteria provided, single submitter clinical testing The p.P493L variant (also known as c.1478C>T), located in coding exon 9 of the MEN1 gene, results from a C to T substitution at nucleotide position 1478. The proline at codon 493 is replaced by leucine, an amino acid with similar 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.
Baylor Genetics RCV000525912 SCV005060834 uncertain significance Multiple endocrine neoplasia, type 1 2023-12-24 criteria provided, single submitter clinical testing

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