ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.3070A>T (p.Ile1024Phe)

gnomAD frequency: 0.00029  dbSNP: rs144126512
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002075030 SCV002371857 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004612130 SCV005106032 uncertain significance not specified 2024-03-18 criteria provided, single submitter clinical testing The c.3073A>T (p.I1025F) alteration is located in exon 31 (coding exon 31) of the COL4A6 gene. This alteration results from a A to T substitution at nucleotide position 3073, causing the isoleucine (I) at amino acid position 1025 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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