ClinVar Miner

Submissions for variant NM_000495.5(COL4A5):c.1690G>C (p.Gly564Arg) (rs281874674)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dhiti Omics Technologies Pvt. Ltd. RCV000233994 SCV000291966 likely pathogenic Alport syndrome 1, X-linked recessive 2015-06-04 criteria provided, single submitter clinical testing The clinical significance was assigned and evaluated based on the ACMG guidelines for Variant Classification (Richards et al, 2015). This variant is absent in population databases (PM2); is a novel missense change at an amino acid residue where a different pathogenic missense change has been seen before (PM5) (Tan et al, 2010, PMC2801648); the patient's phenotype was highly specific for this gene (PP4) and multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3). It is an X-linked dominant inheritance where the mother and daughter of the proband are carriers for the same variant.

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