NM_012434.5(SLC17A5):c.266C>A (p.Pro89His) AND Salla disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 19, 2022
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:: RCV002605553.3

Allele description [Variation Report for NM_012434.5(SLC17A5):c.266C>A (p.Pro89His)]

NM_012434.5(SLC17A5):c.266C>A (p.Pro89His)

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.266C>A (p.Pro89His)

HGVS:

NC_000006.12:g.73644432G>T
NG_008272.1:g.14583C>A
NM_001382629.1:c.61-2508C>A
NM_001382630.1:c.266C>A
NM_001382631.1:c.287C>A
NM_001382632.1:c.266C>A
NM_001382633.1:c.266C>A
NM_001382634.1:c.266C>A
NM_001382635.1:c.266C>A
NM_001382636.1:c.61-2508C>A
NM_012434.5:c.266C>AMANE SELECT
NP_001369559.1:p.Pro89His
NP_001369560.1:p.Pro96His
NP_001369561.1:p.Pro89His
NP_001369562.1:p.Pro89His
NP_001369563.1:p.Pro89His
NP_001369564.1:p.Pro89His
NP_036566.1:p.Pro89His
NC_000006.11:g.74354155G>T

Protein change:

P89H

Molecular consequence:

NM_001382629.1:c.61-2508C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001382636.1:c.61-2508C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001382630.1:c.266C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382631.1:c.287C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382632.1:c.266C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382633.1:c.266C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382634.1:c.266C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382635.1:c.266C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_012434.5:c.266C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Salla disease (SD)
Synonyms:: Sialuria, Finnish type; N-acetylneuraminic acid (NANA) storage disease (NSD); Infantile sialic acid storage disorder (ISSD); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011449; MedGen: C1096903; Orphanet: 309334; Orphanet: 834; OMIM: 604369

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002967197	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 19, 2022)	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

SCV002967197

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 19, 2022)

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002967197.2

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

Description

This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SLC17A5-related conditions. This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 89 of the SLC17A5 protein (p.Pro89His).

#	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 29, 2024

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