NM_000255.4(MMUT):c.842T>C (p.Leu281Ser) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 26, 2013
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:: RCV000186059.2

Allele description [Variation Report for NM_000255.4(MMUT):c.842T>C (p.Leu281Ser)]

NM_000255.4(MMUT):c.842T>C (p.Leu281Ser)

Gene:

MMUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p12.3

Genomic location:

Preferred name:

NM_000255.4(MMUT):c.842T>C (p.Leu281Ser)

Other names:

p.L281S:TTA>TCA

HGVS:

NC_000006.12:g.49456149A>G
NG_007100.1:g.11991T>C
NM_000255.4:c.842T>CMANE SELECT
NP_000246.2:p.Leu281Ser
NC_000006.11:g.49423862A>G
NM_000255.3:c.842T>C
P22033:p.Leu281Ser

Protein change:

L281S

Links:

UniProtKB: P22033#VAR_026605; dbSNP: rs796052007

NCBI 1000 Genomes Browser:

rs796052007

Molecular consequence:

NM_000255.4:c.842T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000239023	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Aug 26, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000239023

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Aug 26, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000239023.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The L281S missense mutation has been reported previously in association with MMA (Worgan et al., 2006). The variant is found in MUT panel(s).

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

Last Updated: Apr 23, 2022

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