ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1]) (rs1306992119)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672563 SCV000797677 likely pathogenic Alport syndrome, autosomal recessive 2018-02-06 criteria provided, single submitter clinical testing
Sydney Genome Diagnostics,Children's Hospital Westmead RCV001328058 SCV001449245 likely pathogenic Hematuria 2018-08-28 no assertion criteria provided clinical testing This patient is heterozygous for the c.2323_2340del (p.Leu775_Gly780del) variant in exon 30 of the COL4A3 gene. This variant results in an inframe deletion of six amino acid residues (Leu-Pro-Gly-Leu-Pro-Gly) in the triple helical domain of the alpha 3 chain of type IV collagen. To our knowledge, this nucleotide variant has not been previously reported. However, a variant involving an inframe deletion of the same six amino acids, c.2313_2330del (p.Leu775_Gly780del), has been previously reported in trans with another pathogenic COL4A3 variant in a patient with autosomal recessive Alport syndrome in the literature (Storey et al 2013 J Am Soc Nephrol 24:1945-1954). This variant is likely to be pathogenic as an inframe deletion of six amino acids is likely to disrupt the folding of the triple helix domain.

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