ClinVar Miner

Submissions for variant NM_005612.5(REST):c.2865_2866del (p.Asn958fs)

dbSNP: rs1553904481
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000516014 SCV000579327 likely pathogenic Fibromatosis, gingival, 1 2017-05-01 criteria provided, single submitter research This variant was identified in an individual with hereditary gingival fibromatosis.
Labcorp Genetics (formerly Invitae), Labcorp RCV001851328 SCV002297694 uncertain significance not provided 2021-02-19 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with gingival fibromatosis (PMID: 28686854). ClinVar contains an entry for this variant (Variation ID: 427771). This sequence change creates a premature translational stop signal (p.Asn958Serfs*9) in the REST gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 140 amino acid(s) of the REST protein.
OMIM RCV000497680 SCV000590794 pathogenic Fibromatosis, gingival, 5 2017-08-15 no assertion criteria provided literature only

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