ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.883C>T (p.Arg295Trp)

gnomAD frequency: 0.00002  dbSNP: rs1046929915
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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 RCV000470592 SCV000541196 likely benign Multiple endocrine neoplasia, type 1 2024-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491071 SCV000579761 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-17 criteria provided, single submitter clinical testing The p.R295W variant (also known as c.883C>T), located in coding exon 5 of the MEN1 gene, results from a C to T substitution at nucleotide position 883. The arginine at codon 295 is replaced by tryptophan, an amino acid with dissimilar 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.
Fulgent Genetics, Fulgent Genetics RCV000470592 SCV000894653 uncertain significance Multiple endocrine neoplasia, type 1 2018-10-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003392263 SCV004120502 uncertain significance MEN1-related disorder 2023-05-24 criteria provided, single submitter clinical testing The MEN1 c.898C>T variant is predicted to result in the amino acid substitution p.Arg300Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-64574512-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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