ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) (rs78972735)

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Total submissions: 7
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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 Alport syndrome 1, X-linked recessive 2016-03-18 criteria provided, single submitter reference population
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000598479 SCV000700762 benign not specified 2016-12-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare 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 RCV000710871 SCV000841178 likely benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV000710871 SCV001021332 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000021452 SCV001141995 uncertain significance Alport syndrome 1, X-linked recessive 2019-05-28 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021452 SCV000042118 likely benign Alport syndrome 1, X-linked recessive 2018-04-13 no assertion criteria provided literature only

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