ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp)

dbSNP: rs765740058
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001299484 SCV001488576 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1388 of the CRB1 protein (p.Gly1388Asp). This variant is present in population databases (no rsID available, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1002988). 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. 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.
Baylor Genetics RCV001333738 SCV001526412 uncertain significance Leber congenital amaurosis 8 2018-02-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002541894 SCV003668407 uncertain significance Inborn genetic diseases 2022-12-07 criteria provided, single submitter clinical testing The c.4163G>A (p.G1388D) alteration is located in exon 12 (coding exon 12) of the CRB1 gene. This alteration results from a G to A substitution at nucleotide position 4163, causing the glycine (G) at amino acid position 1388 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001333738 SCV004180923 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449855 SCV004180924 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449854 SCV004180925 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835424 SCV002090222 uncertain significance Leber congenital amaurosis 2020-08-25 no assertion criteria provided clinical testing

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