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NM_000344.4(SMN1):c.278A>C (p.Lys93Thr) AND Kugelberg-Welander disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 3, 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:
RCV000791267.2

Allele description [Variation Report for NM_000344.4(SMN1):c.278A>C (p.Lys93Thr)]

NM_000344.4(SMN1):c.278A>C (p.Lys93Thr)

Gene:
SMN1:survival of motor neuron 1, telomeric [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q13.2
Genomic location:
Preferred name:
NM_000344.4(SMN1):c.278A>C (p.Lys93Thr)
HGVS:
  • NC_000005.10:g.70942362A>C
  • NG_008691.1:g.22422A>C
  • NM_000344.4:c.278A>CMANE SELECT
  • NM_001297715.1:c.278A>C
  • NM_022874.2:c.278A>C
  • NP_000335.1:p.Lys93Thr
  • NP_000335.1:p.Lys93Thr
  • NP_001284644.1:p.Lys93Thr
  • NP_075012.1:p.Lys93Thr
  • LRG_676t1:c.278A>C
  • LRG_676:g.22422A>C
  • LRG_676p1:p.Lys93Thr
  • NC_000005.9:g.70238189A>C
  • NM_000344.3:c.278A>C
  • p.K93T
Protein change:
K93T
Links:
dbSNP: rs1580886828
NCBI 1000 Genomes Browser:
rs1580886828
Molecular consequence:
  • NM_000344.4:c.278A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001297715.1:c.278A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022874.2:c.278A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Kugelberg-Welander disease (SMA3)
Synonyms:
SPINAL MUSCULAR ATROPHY, TYPE III; SMA III; Muscular atrophy, juvenile; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009672; MedGen: C0152109; Orphanet: 70; Orphanet: 83419; OMIM: 253400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000930553Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 3, 2019) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
African Americanmaternalyes11not providednot providednot providedclinical 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 Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000930553.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African American1not providednot providedclinical testing PubMed (1)

Description

This individual has been diagnosed with SMA based on phenotype and RNASeq data that suggests altered splicing and/or changes in expression levels.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not provided1not provided

Last Updated: Mar 26, 2023