ClinVar Miner

Submissions for variant NM_005612.5(REST):c.2449C>T (p.Arg817Ter)

dbSNP: rs1720961036
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004656625 SCV005156952 uncertain significance Inborn genetic diseases 2024-04-30 criteria provided, single submitter clinical testing The c.2449C>T (p.R817*) alteration, located in exon 4 (coding exon 3) of the REST gene, consists of a C to T substitution at nucleotide position 2449. This changes the amino acid from a arginine (R) to a stop codon at amino acid position 817. This alteration occurs at the 3' terminus of the REST gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 25.6% of the protein. The exact functional effect of this alteration is unknown. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been detected in one family with autosomal dominant pattern of gingival overgrowth (Chen, 2021). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Wang Lab, School of Dentistry, National Taiwan University RCV001549284 SCV001769407 pathogenic Fibromatosis, gingival, 5 2021-08-05 no assertion criteria provided research

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