ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1407del (p.Gly470fs)

dbSNP: rs766025194
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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 RCV001044979 SCV001208806 pathogenic not provided 2023-09-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 842545). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with COL4A3-related conditions. This variant is present in population databases (rs766025194, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Gly470Glufs*28) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700).
Fulgent Genetics, Fulgent Genetics RCV005004995 SCV002810894 likely pathogenic Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-05-20 criteria provided, single submitter clinical testing

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