Submissions for variant NM_006269.2(RP1):c.6353G>A (p.Ser2118Asn)

gnomAD frequency: 0.00002  dbSNP: rs753732597

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001199222	SCV001370259	uncertain significance	Retinitis pigmentosa 1	2019-06-03	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001859208	SCV002168939	uncertain significance	not provided	2023-12-26	criteria provided, single submitter	clinical testing	This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 2118 of the RP1 protein (p.Ser2118Asn). This variant is present in population databases (rs753732597, gnomAD 0.006%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 25097241, 29641573, 31213501, 32100970, 33946315, 34721897, 36284460). ClinVar contains an entry for this variant (Variation ID: 932080). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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	RCV003890341	SCV004706769	uncertain significance	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV003890341	SCV005071639	uncertain significance	Retinal dystrophy	2023-01-01	criteria provided, single submitter	clinical testing