ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser)

gnomAD frequency: 0.00158  dbSNP: rs202082944
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000376225 SCV000471263 benign Occult macular dystrophy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000659100 SCV000577460 uncertain significance not provided 2018-10-18 criteria provided, single submitter clinical testing The P73S variant in the RP1L1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P73S variant is observed in 178/65484 (0.3%) alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016). The P73S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P73S as a variant of uncertain significance.
CeGaT Center for Human Genetics Tuebingen RCV000659100 SCV000780910 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing RP1L1: BS2
Invitae RCV000659100 SCV001054479 benign not provided 2024-01-15 criteria provided, single submitter clinical testing

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