ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003110424 SCV003781425 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-06-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1179 of the CRB1 protein (p.Asp1179Asn). This variant is present in population databases (rs765700280, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. 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 not 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.
Ambry Genetics RCV003162120 SCV003894519 uncertain significance Inborn genetic diseases 2023-02-07 criteria provided, single submitter clinical testing The c.3535G>A (p.D1179N) alteration is located in exon 9 (coding exon 9) of the CRB1 gene. This alteration results from a G to A substitution at nucleotide position 3535, causing the aspartic acid (D) at amino acid position 1179 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455761 SCV004180167 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455762 SCV004180168 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455760 SCV004180169 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing

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