ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala)

gnomAD frequency: 0.00215  dbSNP: rs188353745
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000314678 SCV000332196 benign not specified 2015-06-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305384 SCV000415630 likely benign Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000382066 SCV000483872 likely benign Mucolipidosis type IV 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000314678 SCV000533364 benign not specified 2016-10-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000471944 SCV000560976 benign Hereditary spastic paraplegia 39 2024-01-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000314678 SCV000614687 benign not specified 2016-11-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000471944 SCV001290943 benign Hereditary spastic paraplegia 39 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848048 SCV002105534 benign Hereditary spastic paraplegia 2021-12-16 criteria provided, single submitter clinical testing

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