ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.50A>G (p.Lys17Arg) (rs114969026)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480643 SCV000570551 uncertain significance not specified 2016-06-02 criteria provided, single submitter clinical testing The K17R variant in the COL4A4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. While not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports K17R was observed in 46/3854 (1.19%) alleles from individuals of African American background, indicating it may be a rare variant in this population. The K17R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret K17R as a variant of uncertain significance.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000480643 SCV000966410 likely benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Lys17Arg in exon 2 of COL4A4: This variant is not expected to have clinical si gnificance because it has been identified in 1.13% (111/9798) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs114969026).
Invitae RCV000904082 SCV001048583 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000904082 SCV001143242 benign not provided 2019-06-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001138181 SCV001298214 likely benign Alport syndrome 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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