Submissions for variant NM_003849.4(SUCLG1):c.345T>C (p.Ala115=)

gnomAD frequency: 0.00027  dbSNP: rs374594774

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000290324	SCV000432146	uncertain significance	Mitochondrial DNA depletion syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000345295	SCV000432147	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.
GeneDx	RCV001718713	SCV000730123	likely benign	not provided	2020-02-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000345295	SCV001012991	likely benign	Mitochondrial DNA depletion syndrome 9	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001718713	SCV004699149	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SUCLG1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003922464	SCV004739822	likely benign	SUCLG1-related disorder	2019-05-23	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).