ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.1704C>G (p.Pro568=)

gnomAD frequency: 0.00930  dbSNP: rs62111288
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227760 SCV000289581 benign Hereditary spastic paraplegia 39 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000427603 SCV000528695 benign not specified 2016-10-10 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.
Illumina Laboratory Services, Illumina RCV000227760 SCV001294187 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Athena Diagnostics Inc RCV000427603 SCV001475981 benign not specified 2020-03-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847964 SCV002105495 benign Hereditary spastic paraplegia 2021-11-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262835 SCV002546053 benign not provided 2024-02-01 criteria provided, single submitter clinical testing PNPLA6: BP4, BP7, BS1, BS2

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