ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.1032+3_1032+6del (rs104886314)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV001268966 SCV001446358 likely pathogenic See cases 2020-11-25 criteria provided, single submitter clinical testing We observed the genetic variant c.1032+3_1032+6del in COL4A5 gene in a male 24-y.o. proband diagnosed with Alport syndrome and dilated cardiomyopathy. To our knowledge, the c.1032+3_1032+6del variant is absent from large population studies, which makes it rare (PM2 criteria). According to in silico splice site prediction tools (PP3), this variant alters canonical splice sites, therefore, leading to the changes in protein length (PM4). The phenotype of our patient and his family history are highly illustrative (PP4). The mode of inheritance is X-linked recessive, with severe clinical symptoms in men and relatively mild symptoms of kidney disorder in women. Additionally, this variant was previously reported as Pathogenic, though no functional studies are available to date (PP5). Because of the combination of listed criteria we classify the c.1032+3_1032+6del variant as likely pathogenic.
Research and Development, ARUP Laboratories RCV000021235 SCV000041901 pathogenic Alport syndrome 1, X-linked recessive 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.
GenomeConnect, ClinGen RCV000021235 SCV000986839 not provided Alport syndrome 1, X-linked recessive no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 06/18/2018 by GTR ID The Hospital for Sick Children. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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