NM_000116.5(TAFAZZIN):c.635T>C (p.Leu212Pro) AND 3-Methylglutaconic aciduria type 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 11, 2020
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:: RCV003237257.1

Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.635T>C (p.Leu212Pro)]

NM_000116.5(TAFAZZIN):c.635T>C (p.Leu212Pro)

Gene:

TAFAZZIN:tafazzin, phospholipid-lysophospholipid transacylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000116.5(TAFAZZIN):c.635T>C (p.Leu212Pro)

HGVS:

NC_000023.11:g.154420083T>C
NG_009634.2:g.13549T>C
NG_147842.1:g.596T>C
NG_147843.1:g.94T>C
NM_000116.5:c.635T>CMANE SELECT
NM_001303465.2:c.647T>C
NM_001410698.1:c.599T>C
NM_181311.4:c.545T>C
NM_181312.4:c.593T>C
NM_181313.4:c.503T>C
NP_000107.1:p.Leu212Pro
NP_001290394.1:p.Leu216Pro
NP_001397627.1:p.Leu200Pro
NP_851828.1:p.Leu182Pro
NP_851829.1:p.Leu198Pro
NP_851830.1:p.Leu168Pro
LRG_131t1:c.635T>C
LRG_131:g.13549T>C
LRG_131p1:p.Leu212Pro
NC_000023.10:g.153648422T>C
NR_024048.3:n.956T>C

Protein change:

L168P

Molecular consequence:

NM_000116.5:c.635T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001303465.2:c.647T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001410698.1:c.599T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181311.4:c.545T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181312.4:c.593T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181313.4:c.503T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_024048.3:n.956T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: 3-Methylglutaconic aciduria type 2 (BTHS)
Synonyms:: Barth syndrome; 3-methylglutaconicaciduria type II; MGA type II; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010543; MedGen: C0574083; Orphanet: 111; OMIM: 302060

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003935886	Molecular Diagnostics Lab, Nemours Children's Health, Delaware	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 11, 2020)	maternal, unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9345098, 14662265, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003935886

Molecular Diagnostics Lab, Nemours Children's Health, Delaware

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 11, 2020)

maternal, unknown

clinical testing

PubMed (3)
[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	maternal	yes	1	not provided	not provided	1	not provided	clinical testing
not provided	unknown	no	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Mutation characterization and genotype-phenotype correlation in Barth syndrome.

Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R.

Am J Hum Genet. 1997 Nov;61(5):1053-8.

PubMed [citation]

PMID:: 9345098
PMCID:: PMC1716030

Phospholipid abnormalities in children with Barth syndrome.

Schlame M, Kelley RI, Feigenbaum A, Towbin JA, Heerdt PM, Schieble T, Wanders RJ, DiMauro S, Blanck TJ.

J Am Coll Cardiol. 2003 Dec 3;42(11):1994-9.

PubMed [citation]

PMID:: 14662265

See all PubMed Citations (3)

Details of each submission

From Molecular Diagnostics Lab, Nemours Children's Health, Delaware, SCV003935886.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing (GTR000500853.3)	PubMed (3)
2	not provided	1	not provided	not provided	clinical testing (GTR000500853.3)	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	1	blood	not provided	(GTR000500853.3)	1	not provided	not provided	not provided
2	unknown	no	1	blood	not provided	(GTR000500853.3)	1	not provided	not provided	not provided

Last Updated: Jul 1, 2023

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