Submissions for variant NM_003849.4(SUCLG1):c.900C>T (p.Ala300=)

gnomAD frequency: 0.00155  dbSNP: rs113840224

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000186192	SCV000239218	benign	not specified	2014-09-05	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	RCV000279864	SCV000432140	uncertain significance	Mitochondrial DNA depletion syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000316302	SCV000432141	uncertain significance	Mitochondrial DNA depletion syndrome 9	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000316302	SCV001017230	benign	Mitochondrial DNA depletion syndrome 9	2024-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000677031	SCV004183758	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SUCLG1: BP4, BP7
Mayo Clinic Laboratories, Mayo Clinic	RCV000677031	SCV000802865	likely benign	not provided	2017-12-29	no assertion criteria provided	clinical testing