ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu)

gnomAD frequency: 0.00001  dbSNP: rs121908682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV002512835 SCV003761015 uncertain significance PLA2G6-associated neurodegeneration 2023-01-24 criteria provided, single submitter curation The p.Val310Glu variant in PLA2G6 has been reported in 2 individuals with PLA2G6-associated neurodegeneration (PMID: 16783378, 19138334) and has been identified in 0.008% (2/24036) of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP ID: rs121908682). Although this variant has been seen in the general population in a heterozygous state, its frequency is low enough to be consistent with a recessive carrier frequency. This variant has also been reported in ClinVar (Variation ID#: 6197) and has been interpreted as pathogenic by OMIM. Of the 2 affected individuals, 1 of those was a homozygote, which increases the likelihood that the p.Val310Glu variant is pathogenic (PMID: 16783378). Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Val310Glu variant is uncertain. ACMG/AMP Criteria applied: PP3, PM2_supporting, PM3_supporting (Richards 2015).
OMIM RCV000006574 SCV000026757 pathogenic Infantile neuroaxonal dystrophy 2006-07-01 no assertion criteria provided literature only

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