ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1127C>T (p.Pro376Leu)

dbSNP: rs760049264
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518062 SCV000612939 uncertain significance not specified 2016-12-31 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003338627 SCV004047816 uncertain significance Autosomal dominant Alport syndrome criteria provided, single submitter clinical testing The missense c.1127C>T (p.Pro376Leu) variant in COL4A3 gene has been submitted to ClinVar as a Variant of Uncertain Significance, but no details are available for independent assessment. It has not been reported in affected individuals. The variant is observed in 0.002% alleles in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The amino acid Pro at position 376 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Pro376Leu in COL4A3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV005018875 SCV005648955 uncertain significance Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-03-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834657 SCV002076389 uncertain significance Alport syndrome 2019-10-28 no assertion criteria provided clinical testing

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