ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3625G>A (p.Val1209Met)

gnomAD frequency: 0.00003  dbSNP: rs201349525
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246203 SCV001419543 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-10-26 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1209 of the CRB1 protein (p.Val1209Met). This variant is present in population databases (rs201349525, gnomAD 0.006%). 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: 970607). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt CRB1 protein function with a positive predictive value of 95%. 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 RCV002568647 SCV003700217 uncertain significance Inborn genetic diseases 2024-12-30 criteria provided, single submitter clinical testing The c.3625G>A (p.V1209M) 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 3625, causing the valine (V) at amino acid position 1209 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003449781 SCV004180171 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449782 SCV004180172 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449780 SCV004180173 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835259 SCV002090205 uncertain significance Leber congenital amaurosis 2020-01-17 no assertion criteria provided clinical testing

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