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NM_003640.5(ELP1):c.18A>T (p.Leu6Phe) AND Familial dysautonomia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 10, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001829972.1

Allele description [Variation Report for NM_003640.5(ELP1):c.18A>T (p.Leu6Phe)]

NM_003640.5(ELP1):c.18A>T (p.Leu6Phe)

Gene:
ELP1:elongator acetyltransferase complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.3
Genomic location:
Preferred name:
NM_003640.5(ELP1):c.18A>T (p.Leu6Phe)
HGVS:
  • NC_000009.12:g.108931129T>A
  • NG_008788.1:g.8200A>T
  • NM_001318360.2:c.-252-73A>T
  • NM_001330749.2:c.-842A>T
  • NM_003640.5:c.18A>TMANE SELECT
  • NP_003631.2:p.Leu6Phe
  • LRG_251t1:c.18A>T
  • LRG_251:g.8200A>T
  • NC_000009.11:g.111693409T>A
  • NC_000009.11:g.111693409T>A
  • NM_003640.3:c.18A>T
Protein change:
L6F
Links:
dbSNP: rs1829992932
NCBI 1000 Genomes Browser:
rs1829992932
Molecular consequence:
  • NM_001330749.2:c.-842A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001318360.2:c.-252-73A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003640.5:c.18A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial dysautonomia (HSAN3)
Synonyms:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN III; Hereditary sensory and autonomic neuropathy 3; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009131; MedGen: C0013364; Orphanet: 1764; OMIM: 223900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002082192Natera, Inc.
no assertion criteria provided
Uncertain significance
(Sep 10, 2018)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002082192.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024