ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.330dup (p.Lys111fs)

dbSNP: rs770312128
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001807934 SCV002058229 likely pathogenic Retinitis pigmentosa 88 2022-01-03 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000041, PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Labcorp Genetics (formerly Invitae), Labcorp RCV001869574 SCV002187286 uncertain significance not provided 2022-08-24 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 27029556, 31087526). This variant is present in population databases (rs770312128, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Lys111Glnfs*27) in the RP1L1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RP1L1 cause disease. ClinVar contains an entry for this variant (Variation ID: 1333246). 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.
Dept Of Ophthalmology, Nagoya University RCV003888323 SCV004706000 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Clinical Genetics Laboratory, Skane University Hospital Lund RCV001869574 SCV005198077 likely pathogenic not provided 2024-01-02 criteria provided, single submitter clinical testing

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