ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1203A>G (p.Ala401=)

gnomAD frequency: 0.00001  dbSNP: rs778832152
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766980 SCV000572122 uncertain significance not provided 2019-06-18 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Athena Diagnostics RCV000766980 SCV000612958 uncertain significance not provided 2020-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000766980 SCV001558538 pathogenic not provided 2023-05-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 422613). This variant has been observed in individuals with clinical features of Alport syndrome (Invitae). This variant is present in population databases (rs778832152, gnomAD 0.0009%). This sequence change affects codon 401 of the COL4A4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL4A4 protein. It affects a nucleotide within the consensus splice site.
Fulgent Genetics, Fulgent Genetics RCV002475943 SCV002790937 uncertain significance Autosomal recessive Alport syndrome; Benign familial hematuria 2022-01-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000766980 SCV003833704 uncertain significance not provided 2020-06-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835819 SCV002084159 uncertain significance Alport syndrome 2021-06-17 no assertion criteria provided clinical testing

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