Submissions for variant NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr)

gnomAD frequency: 0.00476  dbSNP: rs147727753

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124984	SCV000168424	benign	not specified	2014-06-06	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.
Eurofins Ntd Llc (ga)	RCV000124984	SCV000339431	likely benign	not specified	2016-02-24	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000419296	SCV000511053	likely benign	not provided	2016-10-25	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000419296	SCV001117482	likely benign	not provided	2025-01-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000419296	SCV001153275	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	FASTKD2: BP4, BS2
Illumina Laboratory Services, Illumina	RCV001136864	SCV001296738	uncertain significance	Mitochondrial complex IV deficiency, nuclear type 1	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.
Mayo Clinic Laboratories, Mayo Clinic	RCV000419296	SCV000802775	likely benign	not provided	2017-11-01	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915250	SCV004746354	benign	FASTKD2-related disorder	2020-05-22	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).