ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.757C>A (p.Pro253Thr)

dbSNP: rs943754830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001976337 SCV002263331 uncertain significance Leber congenital amaurosis 13 2024-11-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 253 of the RDH12 protein (p.Pro253Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1475564). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt RDH12 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV001976337 SCV002776823 uncertain significance Leber congenital amaurosis 13 2021-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002573426 SCV003529910 uncertain significance Inborn genetic diseases 2024-11-08 criteria provided, single submitter clinical testing The c.757C>A (p.P253T) alteration is located in exon 8 (coding exon 6) of the RDH12 gene. This alteration results from a C to A substitution at nucleotide position 757, causing the proline (P) at amino acid position 253 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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