ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1576G>A (p.Ala526Thr)

dbSNP: rs1295193195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002044109 SCV002109859 likely benign Multiple endocrine neoplasia, type 1 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038788 SCV003614789 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-01 criteria provided, single submitter clinical testing The p.A526T variant (also known as c.1576G>A), located in coding exon 9 of the MEN1 gene, results from a G to A substitution at nucleotide position 1576. The alanine at codon 526 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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