ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.3746G>A (p.Arg1249Gln)

gnomAD frequency: 0.00045  dbSNP: rs147412276
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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 RCV000897096 SCV001041216 benign not provided 2023-08-17 criteria provided, single submitter clinical testing
GeneDx RCV000897096 SCV002504028 likely benign not provided 2020-03-09 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002515059 SCV003758278 uncertain significance Inborn genetic diseases 2020-12-07 criteria provided, single submitter clinical testing The c.3746G>A (p.R1249Q) alteration is located in exon 13 (coding exon 13) of the CRB2 gene. This alteration results from a G to A substitution at nucleotide position 3746, causing the arginine (R) at amino acid position 1249 to be replaced by a glutamine (Q). The in silico prediction for the p.R1249Q alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
OMIM RCV000157658 SCV000207609 pathogenic Focal segmental glomerulosclerosis 9 2015-01-08 no assertion criteria provided literature only
Reproductive Health Research and Development, BGI Genomics RCV000157658 SCV001142403 uncertain significance Focal segmental glomerulosclerosis 9 2020-01-06 no assertion criteria provided curation NM_173689.5:c.3746G>A in the CRB2 gene has an allele frequency of 0.025 in Ashkenazi Jewish subpopulation in the gnomAD database. 4 homozygous occurrences are observed in the gnomAD database. Ebarasi et al. reported a homozygozity in a patient with Steroid-Resistant Nephrotic Syndrome in a consanguineous family (PMID: 25557779). We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: BS1.

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