ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.4708G>A (p.Glu1570Lys) (rs757328549)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000991624 SCV001143241 uncertain significance not provided 2018-09-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001140737 SCV001301023 uncertain significance Alport syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Division of Nephrology,Beth Israel Deaconess Medical Center RCV000859980 SCV000920872 likely pathogenic Alport syndrome, autosomal recessive no assertion criteria provided provider interpretation The c.4708G>A variant in COL4A4 was observed along with another COL4A4 variant, c.3861delinsCTC, in a female patient with clinical and renal biopsy findings consistent with Alport Syndrome. This patient was interpreted as being compound heterozygous for variants causing autosomal recessive Alport Syndrome. This patient had a relatively mild phenotype. This case manuscript is under revision for publication.

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