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NM_182760.4(SUMF1):c.616G>A (p.Val206Ile) AND Multiple sulfatase deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 30, 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:
RCV002032035.5

Allele description [Variation Report for NM_182760.4(SUMF1):c.616G>A (p.Val206Ile)]

NM_182760.4(SUMF1):c.616G>A (p.Val206Ile)

Gene:
SUMF1:sulfatase modifying factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p26.1
Genomic location:
Preferred name:
NM_182760.4(SUMF1):c.616G>A (p.Val206Ile)
HGVS:
  • NC_000003.12:g.4418119C>T
  • NG_016225.2:g.54164G>A
  • NM_001164674.2:c.541G>A
  • NM_001164675.2:c.616G>A
  • NM_182760.4:c.616G>AMANE SELECT
  • NP_001158146.1:p.Val181Ile
  • NP_001158147.1:p.Val206Ile
  • NP_877437.2:p.Val206Ile
  • NC_000003.11:g.4459803C>T
Protein change:
V181I
Links:
dbSNP: rs1303958118
NCBI 1000 Genomes Browser:
rs1303958118
Molecular consequence:
  • NM_001164674.2:c.541G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164675.2:c.616G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182760.4:c.616G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Multiple sulfatase deficiency (MSD)
Synonyms:
Juvenile sulfatidosis; Mucosulfatidosis; Multiple Sulfatase Deficiency Disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010088; MedGen: C0268263; Orphanet: 585; OMIM: 272200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002309822Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Sep 30, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV002309822.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces valine with isoleucine at codon 206 of the SUMF1 protein (p.Val206Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SUMF1-related conditions. 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 C25"). 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024