ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.758C>G (p.Pro253Arg)

dbSNP: rs770465995
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002486024 SCV002783741 uncertain significance Leber congenital amaurosis 13 2022-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002486024 SCV003251258 uncertain significance Leber congenital amaurosis 13 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 253 of the RDH12 protein (p.Pro253Arg). This variant is present in population databases (rs770465995, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with RDH12-related conditions. ClinVar contains an entry for this variant (Variation ID: 989725). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RDH12 protein function. 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.
Ambry Genetics RCV002537755 SCV003698841 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.758C>G (p.P253R) alteration is located in exon 8 (coding exon 6) of the RDH12 gene. This alteration results from a C to G substitution at nucleotide position 758, causing the proline (P) at amino acid position 253 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001277617 SCV001464581 uncertain significance Leber congenital amaurosis 2020-08-14 no assertion criteria provided clinical testing

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