NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 12, 2017
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:: RCV000498363.1

Allele description [Variation Report for NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro)]

NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro)

Gene:

LHFPL5:LHFPL tetraspan subfamily member 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.31

Genomic location:

Preferred name:

NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro)

HGVS:

NC_000006.12:g.35814708T>C
NG_012184.2:g.14415T>C
NM_182548.4:c.575T>CMANE SELECT
NP_872354.1:p.Leu192Pro
LRG_1352t1:c.575T>C
LRG_1352p1:p.Leu192Pro
NC_000006.11:g.35782485T>C
NG_012184.1:g.14415T>C
NM_182548.3:c.575T>C

Protein change:

L192P

Links:

dbSNP: rs1554147220

NCBI 1000 Genomes Browser:

rs1554147220

Molecular consequence:

NM_182548.4:c.575T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 67
Synonyms:: Deafness, autosomal recessive 67
Identifiers:: MONDO: MONDO:0012460; MedGen: C1853223; Orphanet: 90636; OMIM: 610265

Name:: Autosomal recessive non-syndromic intellectual disability
Synonyms:: Mental retardation, autosomal recessive
Identifiers:: MONDO: MONDO:0019502; MedGen: C5680181; Orphanet: 88616; OMIM: PS249500

Recent activity

Clear Turn Off Turn On

ras-associating and dilute domain-containing protein isoform 1 [Mus musculus]
ras-associating and dilute domain-containing protein isoform 1 [Mus musculus]
gi|575771880|ref|NP_001276517.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000502999	Leeds Institute of Biomedical and Clinical Sciences, University of Leeds	criteria provided, single submitter (Submitter's publication)	Pathogenic (Feb 12, 2017)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000502999

Leeds Institute of Biomedical and Clinical Sciences, University of Leeds

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Feb 12, 2017)

germline

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.

Al-Amri A, Saegh AA, Al-Mamari W, El-Asrag ME, Ivorra JL, Cardno AG, Inglehearn CF, Clapcote SJ, Ali M.

Am J Med Genet A. 2016 Jul;170(7):1826-31. doi: 10.1002/ajmg.a.37690. Epub 2016 May 5.

PubMed [citation]

PMID:: 27148795

Details of each submission

From Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, SCV000502999.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Arab	not provided	not provided	not provided	research	PubMed (1)

#	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: Nov 4, 2023

ClinVar

Relating variation to medicine