ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.670_672dup (p.Ser224dup)

dbSNP: rs1555142799
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670976 SCV000795908 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2017-11-29 criteria provided, single submitter clinical testing
Invitae RCV000670976 SCV003287185 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-11-26 criteria provided, single submitter clinical testing This variant, c.670_672dup, results in the insertion of 1 amino acid(s) of the RAPSN protein (p.Ser224dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of RAPSN-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 555203). Experimental studies and prediction algorithms are not available or were not evaluated, 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.

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