NM_018109.4(MTPAP):c.1468G>T (p.Val490Leu) AND Spastic ataxia 4

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 1, 2015
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000414824.1

Allele description [Variation Report for NM_018109.4(MTPAP):c.1468G>T (p.Val490Leu)]

NM_018109.4(MTPAP):c.1468G>T (p.Val490Leu)

Gene:

MTPAP:mitochondrial poly(A) polymerase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p11.23

Genomic location:

Preferred name:

NM_018109.4(MTPAP):c.1468G>T (p.Val490Leu)

HGVS:

NC_000010.11:g.30313890C>A
NG_028096.1:g.40449G>T
NM_018109.4:c.1468G>TMANE SELECT
NP_060579.3:p.Val490Leu
NP_060579.3:p.Val490Leu
NC_000010.10:g.30602819C>A
NM_018109.3:c.1468G>T

Protein change:

V490L

Links:

dbSNP: rs1057518710

NCBI 1000 Genomes Browser:

rs1057518710

Molecular consequence:

NM_018109.4:c.1468G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Spastic ataxia 4
Synonyms:: Ataxia, spastic, 4, autosomal recessive
Identifiers:: MONDO: MONDO:0013354; MedGen: C3150925; Orphanet: 254343; OMIM: 613672

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CLP protease regulatory subunit CLPX1, mitochondrial isoform X2 [Cucumis melo]
CLP protease regulatory subunit CLPX1, mitochondrial isoform X2 [Cucumis melo]
gi|659133628|ref|XP_008466827.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000328823	Baylor Genetics	no assertion criteria provided	Uncertain significance (Jul 1, 2015)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000328823

Baylor Genetics

no assertion criteria provided

Uncertain significance
(Jul 1, 2015)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	1	not provided	not provided	yes	clinical testing

Details of each submission

From Baylor Genetics, SCV000328823.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	yes	clinical testing (GTR000508680.4)	not provided
2	not provided	not provided	not provided	not provided	clinical testing (GTR000508680.4)	not provided

Description

Our laboratory reported dual molecular diagnoses in MTPAP (NM_018109.3, c.1468G>T) and NPC1 (NM_000271.3, c.839delT and c.2747A>G) in one individual with reported features of global developmental delay, developmental regression, central hypotonia, short stature, failure to thrive, familial neurodegenerative disease, cerebellar problems on brain MRI, absence like episodes, left hip dislocation, and constipation. Similarly affected sibling was also homozygous for MTPAP variant.

#	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	(GTR000508680.4)	1	not provided	1	not provided
2	germline	unknown	not provided	not provided	not provided	(GTR000508680.4)	not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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