ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.4985G>A (p.Arg1662His)

gnomAD frequency: 0.00012  dbSNP: rs200192119
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000369382 SCV000382706 benign Porencephaly 2 2018-01-12 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 RCV001795935 SCV003020570 benign not provided 2023-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002520861 SCV003548172 uncertain significance Inborn genetic diseases 2021-04-20 criteria provided, single submitter clinical testing The c.4985G>A (p.R1662H) alteration is located in exon 48 (coding exon 47) of the COL4A2 gene. This alteration results from a G to A substitution at nucleotide position 4985, causing the arginine (R) at amino acid position 1662 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795935 SCV002036611 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001795935 SCV002037642 uncertain significance not provided no assertion criteria provided clinical testing

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