ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)

dbSNP: rs62636267
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000086314 SCV000339402 likely pathogenic not provided 2016-02-10 criteria provided, single submitter clinical testing
Invitae RCV001380408 SCV001578473 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-08-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 CRB1 protein function. ClinVar contains an entry for this variant (Variation ID: 99876). This missense change has been observed in individuals with CRB1-related conditions (PMID: 15024725, 20956273, 22065545). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs62636267, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 741 of the CRB1 protein (p.Met741Thr).
Genome-Nilou Lab RCV001250657 SCV004180012 likely pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453017 SCV004180013 likely pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Retina International RCV000086314 SCV000118460 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250657 SCV001425528 likely pathogenic Leber congenital amaurosis 8 no assertion criteria provided research

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