Submissions for variant NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)

gnomAD frequency: 0.00160  dbSNP: rs145988230

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000487803	SCV000575140	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	PNPLA6: BP4
Athena Diagnostics	RCV000516319	SCV000614689	likely benign	not specified	2021-04-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000487803	SCV000723757	likely benign	not provided	2021-05-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30564185)
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000613986	SCV000743613	likely benign	Hereditary spastic paraplegia 39	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000613986	SCV000744932	likely benign	Hereditary spastic paraplegia 39	2017-05-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000613986	SCV000767920	benign	Hereditary spastic paraplegia 39	2024-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000613986	SCV001288412	uncertain significance	Hereditary spastic paraplegia 39	2018-01-12	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.
Mayo Clinic Laboratories, Mayo Clinic	RCV000487803	SCV001712940	uncertain significance	not provided	2020-06-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848857	SCV002105501	uncertain significance	Hereditary spastic paraplegia	2018-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000613986	SCV000733932	likely benign	Hereditary spastic paraplegia 39		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000487803	SCV001925765	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535540	SCV004751358	likely benign	PNPLA6-related disorder	2022-12-29	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).