ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.454C>T (p.Pro152Ser)

gnomAD frequency: 0.00001  dbSNP: rs1261697277
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668163 SCV000792718 uncertain significance Enhanced S-cone syndrome; Retinitis pigmentosa 37 2017-07-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001323098 SCV001514000 uncertain significance not provided 2021-03-18 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 152 of the NR2E3 protein (p.Pro152Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NR2E3-related conditions. ClinVar contains an entry for this variant (Variation ID: 552825). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Natera, Inc. RCV001835088 SCV002085607 uncertain significance Enhanced S-cone syndrome 2020-05-04 no assertion criteria provided clinical testing

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