ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val)

gnomAD frequency: 0.00119  dbSNP: rs78972735
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000021452 SCV000267267 uncertain significance X-linked Alport syndrome 2016-03-18 criteria provided, single submitter reference population
Eurofins Ntd Llc (ga) RCV000598479 SCV000700762 benign not specified 2016-12-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000598479 SCV000732049 benign not specified 2017-12-21 criteria provided, single submitter clinical testing p.Gly953Val in exon 33 of COL4A5: This variant is not expected to have clinica l significance, because it has been identified in 3.7% (513/13865) of East Asian chromosomes including 7 homozygotes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs104886203, rs78972735). Although it has been reported in several individuals with Alport syndrome or hearing loss, 2 individuals with Alport syndrome had another COL4A5 variant in cis with this va riant, and one individual was reported to have polycystic kidney disease with no additional clinical features of Alport syndrome (Knebelmann 1996, Lennon 2015, Miao 2017, Miyagawa 2013, Nishio 2015, Randles 2016, Tan 2010). In summary, it s frequency is too high to be causative for Alport syndrome. ACMG/AMP criteria a pplied: BA1
Athena Diagnostics Inc RCV000598479 SCV000841178 benign not specified 2019-10-28 criteria provided, single submitter clinical testing
Invitae RCV000710871 SCV001021332 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000021452 SCV001141995 benign X-linked Alport syndrome 2023-08-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000021452 SCV001716348 benign X-linked Alport syndrome 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000710871 SCV001949048 benign not provided 2019-09-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22995991, 28827396, 30577881, 30367527, 25739341, 23967202, 8940267, 30245029, 31138263, 28476686, 31180159, 32038292)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002293989 SCV002587478 benign Kidney disorder 2021-06-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000021452 SCV002083652 benign X-linked Alport syndrome 2020-07-16 no assertion criteria provided clinical testing

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