ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.1886G>A (p.Arg629His)

gnomAD frequency: 0.00100  dbSNP: rs148929548
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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 RCV000951816 SCV001098255 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000951816 SCV001904401 benign not provided 2021-05-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271120 SCV002553303 benign Hearing loss, X-linked 6 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029827 SCV004929731 uncertain significance not specified 2024-09-25 criteria provided, single submitter clinical testing The c.1889G>A (p.R630H) alteration is located in exon 23 (coding exon 23) of the COL4A6 gene. This alteration results from a G to A substitution at nucleotide position 1889, causing the arginine (R) at amino acid position 630 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000951816 SCV005206687 likely benign not provided criteria provided, single submitter not provided

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