ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.4096G>A (p.Asp1366Asn)

gnomAD frequency: 0.00013  dbSNP: rs558814304
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000400289 SCV000382684 benign Porencephaly 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000934968 SCV001080703 benign not provided 2023-10-24 criteria provided, single submitter clinical testing
New York Genome Center RCV001281446 SCV001468754 uncertain significance Seizure; Cerebral hemorrhage 2019-07-17 criteria provided, single submitter clinical testing The heterozygous missense p.Asp1366Asn variant identified in the COL4A2 gene has not been reported in affected individuals in the literature. The variant has 0.000342 allele frequency in the gnomAD database (79 out of 231,076 heterozygous alleles). Based on the current evidence, the p.Asp1366Asn variant in the COL4A2 gene is assessed as a variant of uncertain significance.
GeneDx RCV000934968 SCV002013104 uncertain significance not provided 2019-04-29 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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