ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.2706C>T (p.Gly902=)

gnomAD frequency: 0.01159  dbSNP: rs113264142
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000400794 SCV000336752 benign not specified 2015-11-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710180 SCV000614690 benign not provided 2017-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080570 SCV000647027 benign Hereditary spastic paraplegia 39 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000400794 SCV000730083 benign not specified 2018-01-02 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 RCV001080570 SCV001291209 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 RCV001848057 SCV002105506 likely benign Hereditary spastic paraplegia 2021-05-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000710180 SCV005206870 likely benign not provided criteria provided, single submitter not provided

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