ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1391C>T (p.Ala464Val)

gnomAD frequency: 0.00007  dbSNP: rs778728934
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000459240 SCV000541189 likely benign Multiple endocrine neoplasia, type 1 2025-01-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810944 SCV001472733 uncertain significance not provided 2020-07-24 criteria provided, single submitter clinical testing The MEN1 c.1391C>T; p.Ala464Val variant (rs778728934), to our knowledge, is not reported in the medical literature. The variant is listed in the ClinVar database (Variation ID: 403807) and is reported in the South Asian population with an allele frequency of 0.05% (14/30252 alleles) in the Genome Aggregation Database. The alanine at codon 464 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Ala464Val variant is uncertain at this time.
Ambry Genetics RCV002393072 SCV002695998 benign Hereditary cancer-predisposing syndrome 2023-08-08 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Myriad Genetics, Inc. RCV000459240 SCV005403639 likely benign Multiple endocrine neoplasia, type 1 2024-08-08 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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