ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.437T>A (p.Val146Asp)

gnomAD frequency: 0.00001  dbSNP: rs116649873
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001043608 SCV001207363 pathogenic Leber congenital amaurosis 13 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 146 of the RDH12 protein (p.Val146Asp). This variant is present in population databases (rs116649873, gnomAD 0.02%). This missense change has been observed in individuals with autosomal recessive RDH12-related conditions (PMID: 23661369, 26047050, 26124963, 30134391). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 841398). 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 expected to disrupt RDH12 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001043608 SCV004208565 pathogenic Leber congenital amaurosis 13 2024-03-17 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001043608 SCV005417788 pathogenic Leber congenital amaurosis 13 criteria provided, single submitter clinical testing PM2_Supporting+PP3_Strong+PM3_VeryStrong+PP1
Natera, Inc. RCV001277203 SCV001464102 pathogenic Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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