ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4273T>C (p.Ser1425Pro)

gnomAD frequency: 0.00001  dbSNP: rs764494474
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767660 SCV001998577 uncertain significance not provided 2019-09-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001767660 SCV003449248 likely benign not provided 2024-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040212 SCV004929694 uncertain significance Inborn genetic diseases 2022-08-16 criteria provided, single submitter clinical testing The c.4273T>C (p.S1425P) alteration is located in exon 45 (coding exon 44) of the COL4A4 gene. This alteration results from a T to C substitution at nucleotide position 4273, causing the serine (S) at amino acid position 1425 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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