Submissions for variant NM_002437.5(MPV17):c.239C>T (p.Thr80Ile)

gnomAD frequency: 0.00108  dbSNP: rs35759430

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000319816	SCV000335783	likely benign	not specified	2015-10-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000766772	SCV000618158	uncertain significance	not provided	2024-10-19	criteria provided, single submitter	clinical testing	Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV000766772	SCV001092545	likely benign	not provided	2025-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001142397	SCV001302832	uncertain significance	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mayo Clinic Laboratories, Mayo Clinic	RCV000766772	SCV004224865	uncertain significance	not provided	2022-12-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004543028	SCV004761698	likely benign	MPV17-related disorder	2022-04-14	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).