ClinVar Miner

Submissions for variant NM_031448.6(C19orf12):c.215C>T (p.Pro72Leu)

gnomAD frequency: 0.00001  dbSNP: rs201987973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000211114 SCV002562212 likely pathogenic Neurodegeneration with brain iron accumulation 4 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV000211114 SCV002572595 likely pathogenic Neurodegeneration with brain iron accumulation 4 2022-09-01 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.84; 3Cnet: 0.74). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (PMID: 26187298). The variant has been reported to co-segregate with the disease in at least one similarly affected relative/individual in the same family or similarly affected unrelated family (PMID: 26187298). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000211114 SCV000268062 pathogenic Neurodegeneration with brain iron accumulation 4 2013-01-15 no assertion criteria provided literature only

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