ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn)

gnomAD frequency: 0.00006  dbSNP: rs138936375
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001215767 SCV001387529 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-07-29 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 649 of the CRB1 protein (p.Asp649Asn). This variant is present in population databases (rs138936375, gnomAD 0.02%). 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: 945191). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV004033977 SCV004852066 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.1945G>A (p.D649N) alteration is located in exon 6 (coding exon 6) of the CRB1 gene. This alteration results from a G to A substitution at nucleotide position 1945, causing the aspartic acid (D) at amino acid position 649 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828718 SCV002090152 uncertain significance Leber congenital amaurosis 2020-09-01 no assertion criteria provided clinical testing

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