ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3251A>C (p.Glu1084Ala)

gnomAD frequency: 0.00013  dbSNP: rs146873772
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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 RCV000945652 SCV001091692 benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375302 SCV001571876 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PP2_Supporting, PP3_Supporting, BS2_Strong
Ambry Genetics RCV002545992 SCV003661828 uncertain significance Inborn genetic diseases 2022-04-06 criteria provided, single submitter clinical testing The c.3251A>C (p.E1084A) alteration is located in exon 37 (coding exon 37) of the COL4A5 gene. This alteration results from a A to C substitution at nucleotide position 3251, causing the glutamic acid (E) at amino acid position 1084 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001832189 SCV002083657 likely benign X-linked Alport syndrome 2020-04-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003933234 SCV004748036 likely benign COL4A5-related disorder 2023-09-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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