ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys)

gnomAD frequency: 0.00869  dbSNP: rs62621875
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000989167 SCV000382673 likely benign Porencephaly 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000947547 SCV001093728 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Mendelics RCV000989167 SCV001139387 benign Porencephaly 2 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000947547 SCV002585457 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing COL4A2: BP4
Fulgent Genetics, Fulgent Genetics RCV002482897 SCV002799149 likely benign Porencephaly 2; Hemorrhage, intracerebral, susceptibility to 2021-09-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000947547 SCV005218331 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000022470 SCV000043759 risk factor Hemorrhage, intracerebral, susceptibility to 2012-01-13 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004549384 SCV004729420 benign COL4A2-related disorder 2019-12-31 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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