ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.378T>A (p.His126Gln)

gnomAD frequency: 0.00001  dbSNP: rs1658673610
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002769158 SCV003748581 uncertain significance Inborn genetic diseases 2022-05-25 criteria provided, single submitter clinical testing The c.378T>A (p.H126Q) alteration is located in exon 2 (coding exon 2) of the CRB1 gene. This alteration results from a T to A substitution at nucleotide position 378, causing the histidine (H) at amino acid position 126 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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