ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.2092_2093delinsTCTT (p.Lys698fs)

dbSNP: rs2129316420
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV002225178 SCV002503709 likely pathogenic Retinitis pigmentosa 1 2020-04-23 criteria provided, single submitter clinical testing This sequence change is a complex deletion 2 bp and insertion of 4 bp in exon 4 (of 4) of RP1 that is predicted to create a premature termination codon at position 699 (p.Lys698Serfs*2). While this is not anticipated to result in nonsense mediated decay, it is expected to remove the last 1,457 amino acids (68%) of the protein. The last exon is present in a biologically relevant transcript, and multiple pathogenic predicted loss of function variants are present downstream of the variant (ClinVar - PVS1_Strong). The variant is absent in a large population cohort (gnomAD v2.1 - PM2). This variant has not been reported in relevant medical literature or databases. Based on the classification scheme RMH ACMG Guidelines v1.2.1, this variant is classified as LIKELY PATHOGENIC. Following criteria are met: PVS1_Strong, PM2.

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