ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.4510T>C (p.Phe1504Leu) (rs201671013)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597276 SCV000705460 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764366 SCV000895400 uncertain significance Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive; Benign familial hematuria 2018-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825318 SCV000966613 uncertain significance not specified 2018-10-09 criteria provided, single submitter clinical testing The p.Phe1504Leu variant in COL4A3 was identified in the heterozygous state in 1 Portuguese individual with Alport syndrome or thin basement membrane nephropath y (Sa 2015). It has also been identified in several populations by gnomAD, inclu ding 0.09% (9/10150) of Ashkenazi Jewish chromosomes and 0.02% (30/126604) of Eu ropean chromosomes (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may impact the protein , though this information is not predictive enough to determine pathogenicity. I n summary, the clinical significance of this variant is uncertain. ACMG/AMP Crit eria applied: PP3, BS1_Supporting.
Mendelics RCV000987048 SCV001136236 uncertain significance Alport syndrome, autosomal recessive 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001139014 SCV001299120 uncertain significance Alport syndrome 2017-04-28 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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