NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 6, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002472935.2

Allele description [Variation Report for NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)]

NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)

Gene:

MFN2:mitofusin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

Preferred name:

NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)

Other names:

NM_001127660.1:c.1085C>T(p.Thr362Met); NM_014874.3:c.1085C>T(p.Thr362Met)

HGVS:

NC_000001.11:g.12002028C>T
NG_007945.1:g.26848C>T
NM_001127660.2:c.1085C>T
NM_014874.4:c.1085C>TMANE SELECT
NP_001121132.1:p.Thr362Met
NP_001121132.1:p.Thr362Met
NP_055689.1:p.Thr362Met
NP_055689.1:p.Thr362Met
LRG_255t1:c.1085C>T
LRG_255:g.26848C>T
LRG_255p1:p.Thr362Met
NC_000001.10:g.12062085C>T
NM_001127660.1:c.1085C>T
NM_014874.3:c.1085C>T
O95140:p.Thr362Met

Protein change:

T362M; THR362MET

Links:

UniProtKB: O95140#VAR_076897; OMIM: 608507.0019; dbSNP: rs387906991

NCBI 1000 Genomes Browser:

rs387906991

Molecular consequence:

NM_001127660.2:c.1085C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014874.4:c.1085C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002771026	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Jul 6, 2022)	unknown	clinical testing	PubMed (13) [See all records that cite these PMIDs] 26114802, 33475540, 18957892, 29858556, 24863639, 24819634, 33415332, 29625556, 31701603, 16835246, 18458227, 21715711, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002771026

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Jul 6, 2022)

unknown

clinical testing

PubMed (13)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

MFN2 deletion of exons 7 and 8: founder mutation in the UK population.

Carr AS, Polke JM, Wilson J, Pelayo-Negro AL, Laura M, Nanji T, Holt J, Vaughan J, Rankin J, Sweeney MG, Blake J, Houlden H, Reilly MM.

J Peripher Nerv Syst. 2015 Jun;20(2):67-71. doi: 10.1111/jns.12117.

PubMed [citation]

PMID:: 26114802

Analysis of the conformational changes caused by the mutations in mitofusin2 gene by Insilico approach.

Rasheed MA, Kanwal S, Jamil F, Ibrahim M, Perveen S.

J Pak Med Assoc. 2020 Dec;70(12(B)):2342-2345. doi: 10.47391/JPMA.063.

PubMed [citation]

PMID:: 33475540

See all PubMed Citations (13)

Details of each submission

From Athena Diagnostics, SCV002771026.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (13)

Description

The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant is primarily reported in severe, early onset, autosomal recessive form of Charcot-Marie-Tooth type 2A (CMT2A; PMID: 9736777 15786415, 17932099, 18337730, 21387378, 24037712, 28662944). Heterozygous members of these families are reported as asymptomatic. However, this variant has also been reported in autosomal dominant CMT2A (PMID: 16835246, 33475540). Computational tools predict that this variant is damaging.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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