Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000726741 | SCV000576660 | uncertain significance | not provided | 2017-04-24 | criteria provided, single submitter | clinical testing | The F1344L variant in the RP1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The F1344L variant is observed in 34/10380 (0.33%) alleles from individuals of African background in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The F1344L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret F1344L as a variant of uncertain significance. |
Eurofins Ntd Llc |
RCV000726741 | SCV000702650 | uncertain significance | not provided | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000726741 | SCV001056366 | likely benign | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001074453 | SCV001240037 | uncertain significance | Retinal dystrophy | 2017-05-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002526011 | SCV003617544 | uncertain significance | Inborn genetic diseases | 2022-09-06 | criteria provided, single submitter | clinical testing | The c.4030T>C (p.F1344L) alteration is located in exon 4 (coding exon 3) of the RP1 gene. This alteration results from a T to C substitution at nucleotide position 4030, causing the phenylalanine (F) at amino acid position 1344 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |