ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn)

gnomAD frequency: 0.00035  dbSNP: rs150024227
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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 RCV001094773 SCV000438666 uncertain significance PLA2G6-associated neurodegeneration 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.
Invitae RCV000260236 SCV000814750 likely benign Infantile neuroaxonal dystrophy 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000762074 SCV000892329 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing PLA2G6: PM2, BP4
Fulgent Genetics, Fulgent Genetics RCV000765653 SCV000896982 uncertain significance Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2B; Autosomal recessive Parkinson disease 14 2021-09-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000762074 SCV001715628 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing BP4
GeneDx RCV000762074 SCV001769442 uncertain significance not provided 2023-09-06 criteria provided, single submitter clinical testing Reported previously in two siblings with adult-onset Parkinson disease; however, a second PLA2G6 variant was not detected and information regarding parental testing was not available (Ferese et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25294124, 30042723, 32771225)
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000762074 SCV002568246 uncertain significance not provided 2022-06-27 criteria provided, single submitter clinical testing No Applicable ACMG Criteria
Ambry Genetics RCV002523229 SCV003689281 uncertain significance Inborn genetic diseases 2022-08-11 criteria provided, single submitter clinical testing The c.91G>A (p.D31N) alteration is located in exon 2 (coding exon 1) of the PLA2G6 gene. This alteration results from a G to A substitution at nucleotide position 91, causing the aspartic acid (D) at amino acid position 31 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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