ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.407G>A (p.Cys136Tyr)

gnomAD frequency: 0.00001  dbSNP: rs752559648
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091027 SCV001246858 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003473709 SCV004211177 likely pathogenic Leber congenital amaurosis 8 2023-07-09 criteria provided, single submitter clinical testing
GeneDx RCV001091027 SCV005325439 likely pathogenic not provided 2023-08-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31964843, 31879567, 26766544, 32531858)
Labcorp Genetics (formerly Invitae), Labcorp RCV005225224 SCV005862738 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-06-30 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 136 of the CRB1 protein (p.Cys136Tyr). This variant is present in population databases (rs752559648, gnomAD 0.0009%). This missense change has been observed in individuals with CRB1-related conditions (PMID: 26766544, 31879567, 32531858). ClinVar contains an entry for this variant (Variation ID: 871213). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CRB1 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.

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