Submissions for variant NM_000530.8(MPZ):c.306del (p.Asp104fs)

dbSNP: rs281865125

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics, University of Leipzig Medical Center	RCV001705641	SCV001934247	likely pathogenic	Charcot-Marie-Tooth disease dominant intermediate D	2020-10-16	criteria provided, single submitter	clinical testing
Invitae	RCV001852684	SCV002239130	pathogenic	Charcot-Marie-Tooth disease, type I	2023-11-27	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Asp104Thrfs*14) in the MPZ gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MPZ are known to be pathogenic (PMID: 14711881). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with MPZ-related conditions (PMID: 8816708). ClinVar contains an entry for this variant (Variation ID: 41019). For these reasons, this variant has been classified as Pathogenic.
OMIM	RCV002277116	SCV000035513	pathogenic	Autosomal recessive Dejerine-Sottas syndrome	1996-09-01	no assertion criteria provided	literature only
GeneReviews	RCV000033916	SCV000057832	not provided	Charcot-Marie-Tooth disease type 1B		no assertion provided	literature only
GenomeConnect, ClinGen	RCV000033916	SCV000607314	not provided	Charcot-Marie-Tooth disease type 1B		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Inherited Neuropathy Consortium	RCV000789496	SCV000928852	uncertain significance	Charcot-Marie-Tooth disease		no assertion criteria provided	literature only