NM_000169.3(GLA):c.913_945dup (p.Asp315_Val316insProGlnAlaLysAlaLeuLeuGlnAspLysAsp) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 2, 2021
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:: RCV001532917.1

Allele description [Variation Report for NM_000169.3(GLA):c.913_945dup (p.Asp315_Val316insProGlnAlaLysAlaLeuLeuGlnAspLysAsp)]

NM_000169.3(GLA):c.913_945dup (p.Asp315_Val316insProGlnAlaLysAlaLeuLeuGlnAspLysAsp)

Genes:

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

Variant type:

Duplication

Cytogenetic location:

Xq22.1

Genomic location:

Preferred name:

NM_000169.3(GLA):c.913_945dup (p.Asp315_Val316insProGlnAlaLysAlaLeuLeuGlnAspLysAsp)

HGVS:

NC_000023.11:g.101398425_101398457dup
NG_007119.1:g.14508_14540dup
NM_000169.3:c.913_945dupMANE SELECT
NM_001199973.2:c.300+2968_300+3000dup
NM_001199974.2:c.177+6603_177+6635dup
NM_001406747.1:c.1036_1068dup
NM_001406748.1:c.913_945dup
NP_000160.1:p.Asp315_Val316insProGlnAlaLysAlaLeuLeuGlnAspLysAsp
NP_000160.1:p.Asp315_Val316insProGlnAlaLysAlaLeuLeuGlnAspLysAsp
NP_001393676.1:p.Asp356_Val357insProGlnAlaLysAlaLeuLeuGlnAspLysAsp
NP_001393677.1:p.Asp315_Val316insProGlnAlaLysAlaLeuLeuGlnAspLysAsp
LRG_672t1:c.912_944dup
LRG_672:g.14508_14540dup
LRG_672p1:p.Asp315_Val316insProGlnAlaLysAlaLeuLeuGlnAspLysAsp
NC_000023.10:g.100653413_100653445dup
NM_000169.2:c.912_944dup
NM_000169.2:c.913_945dup33
NR_164783.1:n.992_1024dup
NR_176252.1:n.843_875dup
NR_176253.1:n.1050_1082dup

Links:

dbSNP: rs2147471995

NCBI 1000 Genomes Browser:

rs2147471995

Molecular consequence:

NM_000169.3:c.913_945dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001406747.1:c.1036_1068dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001406748.1:c.913_945dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001199973.2:c.300+2968_300+3000dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001199974.2:c.177+6603_177+6635dup - intron variant - [Sequence Ontology: SO:0001627]
NR_164783.1:n.992_1024dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176252.1:n.843_875dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176253.1:n.1050_1082dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001748718	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Jul 2, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001748718

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Jul 2, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001748718.1

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

Description

Variant summary: GLA c.913_945dup33 (p.Pro305_Asp315dup) results in an in-frame duplication that is predicted to duplicate 11 amino acids into the encoded protein. The variant was absent in 183506 control chromosomes. To our knowledge, no occurrence of c.913_945dup33 in individuals affected with Fabry Disease and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS.

#	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 1, 2024

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