ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4643C>T (p.Pro1548Leu)

gnomAD frequency: 0.00004  dbSNP: rs771101410
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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 RCV000878668 SCV001021606 benign not provided 2024-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027912 SCV004929719 uncertain significance Inborn genetic diseases 2022-07-19 criteria provided, single submitter clinical testing The c.4625C>T (p.P1542L) alteration is located in exon 48 (coding exon 48) of the COL4A5 gene. This alteration results from a C to T substitution at nucleotide position 4625, causing the proline (P) at amino acid position 1542 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003938397 SCV004761116 likely benign COL4A5-related disorder 2022-05-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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