ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.755C>A (p.Ser252Tyr)

gnomAD frequency: 0.00004  dbSNP: rs376787473
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001111668 SCV001269243 uncertain significance Retinitis Pigmentosa, Recessive 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001325563 SCV001516559 uncertain significance Leber congenital amaurosis 13 2022-08-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 252 of the RDH12 protein (p.Ser252Tyr). This variant is present in population databases (rs376787473, gnomAD 0.007%). 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: 882201). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002556177 SCV003696734 uncertain significance Inborn genetic diseases 2024-06-28 criteria provided, single submitter clinical testing The c.755C>A (p.S252Y) 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 755, causing the serine (S) at amino acid position 252 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833712 SCV002091288 uncertain significance Leber congenital amaurosis 2020-03-11 no assertion criteria provided clinical testing

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