NM_000169.3(GLA):c.41T>C (p.Leu14Pro) AND not provided

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Jul 13, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000734825.9

Allele description [Variation Report for NM_000169.3(GLA):c.41T>C (p.Leu14Pro)]

NM_000169.3(GLA):c.41T>C (p.Leu14Pro)

Genes:

RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
GLA:galactosidase alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

Preferred name:

NM_000169.3(GLA):c.41T>C (p.Leu14Pro)

HGVS:

NC_000023.11:g.101407863A>G
NG_007119.1:g.5101T>C
NG_016327.1:g.4661A>G
NM_000169.3:c.41T>CMANE SELECT
NM_001199973.2:c.301-4073A>G
NM_001199974.2:c.178-4073A>G
NM_001406747.1:c.41T>C
NM_001406748.1:c.41T>C
NM_001406749.1:c.41T>C
NP_000160.1:p.Leu14Pro
NP_000160.1:p.Leu14Pro
NP_001393676.1:p.Leu14Pro
NP_001393677.1:p.Leu14Pro
NP_001393678.1:p.Leu14Pro
LRG_672t1:c.41T>C
LRG_672:g.5101T>C
LRG_672p1:p.Leu14Pro
NC_000023.10:g.100662851A>G
NM_000169.2:c.41T>C
NR_164783.1:n.63T>C
NR_176252.1:n.63T>C
NR_176253.1:n.63T>C

Protein change:

L14P

Links:

dbSNP: rs730880455

NCBI 1000 Genomes Browser:

rs730880455

Molecular consequence:

NM_001199973.2:c.301-4073A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001199974.2:c.178-4073A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000169.3:c.41T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406747.1:c.41T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406748.1:c.41T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406749.1:c.41T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_164783.1:n.63T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176252.1:n.63T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176253.1:n.63T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000862997	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Likely pathogenic (Aug 21, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV002018438	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 13, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000862997

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Likely pathogenic
(Aug 21, 2018)

germline

clinical testing

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

Citation Link,

SCV002018438

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 13, 2020)

germline

clinical testing

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
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical features and genetic analysis of a Chinese kindred with Fabry's disease.

Tse KC, Chan KW, Tin VP, Yip PS, Tang S, Li FK, Ho YW, Lai KN, Chan TM.

Nephrol Dial Transplant. 2003 Jan;18(1):182-6.

PubMed [citation]

PMID:: 12480979

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Eurofins Ntd Llc (ga), SCV000862997.1

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

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

From Revvity Omics, Revvity, SCV002018438.3

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

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

Last Updated: Sep 16, 2024

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