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NM_020533.3(MCOLN1):c.159C>A (p.Cys53Ter) AND Mucolipidosis type IV

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 20, 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:
RCV001384670.4

Allele description [Variation Report for NM_020533.3(MCOLN1):c.159C>A (p.Cys53Ter)]

NM_020533.3(MCOLN1):c.159C>A (p.Cys53Ter)

Gene:
MCOLN1:mucolipin TRP cation channel 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_020533.3(MCOLN1):c.159C>A (p.Cys53Ter)
HGVS:
  • NC_000019.10:g.7525088C>A
  • NG_015806.1:g.7479C>A
  • NM_020533.3:c.159C>AMANE SELECT
  • NP_065394.1:p.Cys53Ter
  • NC_000019.9:g.7589974C>A
Protein change:
C53*
Links:
dbSNP: rs776845391
NCBI 1000 Genomes Browser:
rs776845391
Molecular consequence:
  • NM_020533.3:c.159C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Mucolipidosis type IV (ML4)
Synonyms:
ML IV; Mucolipidosis type 4; ML 4
Identifiers:
MONDO: MONDO:0009653; MedGen: C0238286; Orphanet: 578; OMIM: 252650

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001584242Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 20, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS Jr, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA.

Hum Mol Genet. 2000 Oct 12;9(17):2471-8.

PubMed [citation]
PMID:
11030752

Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

Bargal R, Avidan N, Olender T, Ben Asher E, Zeigler M, Raas-Rothschild A, Frumkin A, Ben-Yoseph O, Friedlender Y, Lancet D, Bach G.

Hum Mutat. 2001 May;17(5):397-402.

PubMed [citation]
PMID:
11317355
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001584242.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1072052). This variant has not been reported in the literature in individuals affected with MCOLN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys53*) in the MCOLN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MCOLN1 are known to be pathogenic (PMID: 11030752, 11317355).

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

Last Updated: Feb 28, 2024