ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) (rs533297350)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626596 SCV000747297 likely pathogenic Hearing impairment; Myopia; Proteinuria; Hematuria; Hypertensive disorder 2017-01-01 criteria provided, single submitter clinical testing
Counsyl RCV000673767 SCV000799008 uncertain significance Alport syndrome, autosomal recessive 2018-04-02 criteria provided, single submitter clinical testing
Sydney Genome Diagnostics,Children's Hospital Westmead RCV001328187 SCV001449267 uncertain significance Alport syndrome 2018-01-09 no assertion criteria provided clinical testing This individual is also homozygous for the c.4394G>A p.(Gly1465Asp) variant in the COL4A4 gene. To our knowledge, this variant has not been previously reported in the literature or any disease specific databases. The c.4394G>A variant has been reported in the gnomAD browser (http://gnomad.broadinstitute.org) with a very low allele frequency of 0.006% (19 out of 275976 alleles). In silico analysis of pathogenicity (through Alamut Visual v2.8.1) using PolyPhen2, SIFT and MutationTaster all suggest that this variant is likely to be pathogenic. This variant is considered to be a variant of uncertain clinical significance (VOUS) according to the ACMG guidelines.

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