ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.3478C>T (p.Pro1160Ser)

gnomAD frequency: 0.00044  dbSNP: rs200189899
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002008200 SCV002273201 likely benign not provided 2024-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004043261 SCV004929655 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.3478C>T (p.P1160S) alteration is located in exon 38 (coding exon 37) of the COL4A2 gene. This alteration results from a C to T substitution at nucleotide position 3478, causing the proline (P) at amino acid position 1160 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV002008200 SCV005192220 uncertain significance not provided criteria provided, single submitter not provided

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