ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.671G>T (p.Gly224Val)

dbSNP: rs2147770618
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HSP Biomedical Diagnostics Department, Hospital San Pedro RCV001353348 SCV001548363 likely pathogenic X-linked Alport syndrome 2017-12-26 no assertion criteria provided clinical testing The c.671G>T variant, located in coding exon 12 of the COL4A5 gene (NM_000495.5), results from a G to T substitution at nucleotide position 671. The glycine at codon 224 is replaced by valine p.Gly224Val. This alteration has not been reported previously in the literature and it is not detected in general population. The variant is found in a region of the protein where more than 93% of amino acid changes are considered pathological. Therefore, the clinical significance of the c.671G>T variant is likely pathogenic.

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