ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1630C>T (p.Pro544Ser)

dbSNP: rs1387157979
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050468 SCV001214576 uncertain significance Multiple endocrine neoplasia, type 1 2023-11-13 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 544 of the MEN1 protein (p.Pro544Ser). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with clinical features of multiple endocrine neoplasia type 1 (PMID: 10849016). ClinVar contains an entry for this variant (Variation ID: 847015). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MEN1 protein function. 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529168 SCV001742178 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529168 SCV001932606 uncertain significance not provided no assertion criteria provided clinical testing

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