ClinVar Miner

Submissions for variant NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu)

gnomAD frequency: 0.00036  dbSNP: rs139131485
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243911 SCV000311951 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000767176 SCV000536293 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing The P464L variant in the LRRC6 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, P464L was observed with an allele frequency of 0.72% in individuals of South Asian ancestry the Exome Aggregation Consortium (ExAC) data set, indicating it may be a rare variant in this population. The P464L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P464L as a variant of uncertain significance.
Invitae RCV001085911 SCV001091727 likely benign Primary ciliary dyskinesia 19 2021-11-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001085911 SCV001322967 uncertain significance Primary ciliary dyskinesia 19 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Department of Molecular Bıology and Genetics,Istanbul Technical University RCV001823000 SCV002072581 risk factor Multiple sclerosis, susceptibility to no assertion criteria provided research A family with 4 affected and 4 unaffected members was analyzed. The variant is segregated with MS in a fully penetrant manner in the family.

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