ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.3955_3957dup (p.Val1319dup)

dbSNP: rs1831367827
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210582 SCV001382077 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2019-08-15 criteria provided, single submitter clinical testing This variant, c.3955_3957dup, results in the insertion of 1 amino acid(s) to the RELN protein (p.Val1319dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RELN-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002561741 SCV003755549 uncertain significance Inborn genetic diseases 2022-06-03 criteria provided, single submitter clinical testing The c.3955_3957dupGTT (p.V1319dup) alteration is located in exon 28 (coding exon 28) of the RELN gene. The alteration consists of an in-frame duplication of 3 nucleotides from position 3955 to 3957, resulting in the duplication of 1 residue. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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