ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu)

gnomAD frequency: 0.00113  dbSNP: rs146256526
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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 (ga) 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.

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