ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg) (rs764451365)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665296 SCV000789390 uncertain significance Alport syndrome, autosomal recessive 2017-01-27 criteria provided, single submitter clinical testing
Eurofins NTD, LLC RCV000730376 SCV000858106 uncertain significance not provided 2017-11-09 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000730376 SCV001153342 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Invitae RCV000730376 SCV001506972 uncertain significance not provided 2020-10-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 157 of the COL4A3 protein (p.Gly157Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs764451365, ExAC 0.006%). This variant has been observed in individual(s) with bilateral sensorineural hearing loss (PMID: 23967202). ClinVar contains an entry for this variant (Variation ID: 550529). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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