ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.5007CAA[1] (p.Asn1670del)

dbSNP: rs781056404
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523218 SCV000619450 uncertain significance not provided 2022-07-21 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000523218 SCV005690785 uncertain significance not provided 2024-02-02 criteria provided, single submitter clinical testing This variant, c.5010_5012del, results in the deletion of 1 amino acid(s) of the COL4A2 protein (p.Asn1670del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs781056404, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with COL4A2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005356055 SCV005916654 uncertain significance Porencephaly 2 2022-08-16 criteria provided, single submitter research

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