ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.4760C>G (p.Pro1587Arg) (rs190148408)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518567 SCV000612971 uncertain significance not specified 2016-11-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000518567 SCV000966417 likely benign not specified 2018-06-04 criteria provided, single submitter clinical testing p.Pro1587Arg in exon 47 of COL4A4: This variant is classified as likely benign, because although it has been reported in 3 individuals with features of Alport s yndrome (Chatterjee 2013, Mencarelli 2015, Sen 2017), it is present in 0.34% (43 0/126088) of European chromosomes by the Genome Aggregation Database (gnomAD, ht tp://gnomad.broadinstitute.org; dbSNP rs190148408). This allele frequency is too high to cause Alport syndrome or hearing loss due to the COL4A4 gene. ACMG/AMP criteria applied: BS1.
GeneDx RCV000835693 SCV000977498 likely benign not provided 2018-04-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000835693 SCV001024487 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000987042 SCV001136230 uncertain significance Alport syndrome 1, X-linked recessive 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001139982 SCV001300184 uncertain significance Alport syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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