NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) AND Sialic acid storage disease, severe infantile type

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 4, 2019
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:: RCV001332964.3

Allele description [Variation Report for NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)]

NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)

Gene:

SLC17A5:solute carrier family 17 member 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q13

Genomic location:

Preferred name:

NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)

HGVS:

NC_000006.12:g.73644582C>T
NG_008272.1:g.14433G>A
NM_012434.5:c.116G>AMANE SELECT
NP_036566.1:p.Arg39His
NC_000006.11:g.74354305C>T
NM_012434.4:c.116G>A
p.R39H

Protein change:

R39H

Links:

dbSNP: rs769235753

NCBI 1000 Genomes Browser:

rs769235753

Molecular consequence:

NM_012434.5:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Sialic acid storage disease, severe infantile type (ISSD)
Synonyms:: NANA STORAGE DISEASE; Infantile Sialic Acid Storage Disease; Infantile sialic acid storage disorder; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010027; MedGen: C1096902; Orphanet: 309324; Orphanet: 834; OMIM: 269920

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001525425	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 4, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001760186	Genomics England Pilot Project, Genomics England	no assertion criteria provided (ACGS Guidelines, 2016)	Likely pathogenic	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001525425

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 4, 2019)

unknown

clinical testing

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

SCV001760186

Genomics England Pilot Project, Genomics England

no assertion criteria provided

(ACGS Guidelines, 2016)

Likely pathogenic

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

Citations

PubMed

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 Baylor Genetics, SCV001525425.1

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

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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

From Genomics England Pilot Project, Genomics England, SCV001760186.1

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

#	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: Apr 6, 2024

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