Submissions for variant NM_002437.5(MPV17):c.375+1G>A

dbSNP: rs2465681506

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003010217	SCV003313342	likely pathogenic	not provided	2022-02-06	criteria provided, single submitter	clinical testing	In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with MPV17-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 5 of the MPV17 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MPV17 are known to be pathogenic (PMID: 23714749).
Baylor Genetics	RCV003465891	SCV004193746	likely pathogenic	Charcot-Marie-Tooth disease, axonal, type 2EE	2023-08-17	criteria provided, single submitter	clinical testing
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur	RCV005233057	SCV005880235	likely pathogenic	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	2024-02-27	criteria provided, single submitter	clinical testing