ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.1274A>T (p.His425Leu)

gnomAD frequency: 0.00001  dbSNP: rs565397037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000894977 SCV001038994 likely benign Immunodeficiency, common variable, 7 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539431 SCV003701423 uncertain significance Inborn genetic diseases 2021-12-06 criteria provided, single submitter clinical testing The c.1274A>T (p.H425L) alteration is located in exon 7 (coding exon 7) of the CR2 gene. This alteration results from a A to T substitution at nucleotide position 1274, causing the histidine (H) at amino acid position 425 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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