NM_017882.3(CLN6):c.514T>C (p.Tyr172His) AND Neuronal ceroid lipofuscinosis 6

Clinical significance:Likely pathogenic (Last evaluated: Apr 13, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001374417.1

Allele description [Variation Report for NM_017882.3(CLN6):c.514T>C (p.Tyr172His)]

NM_017882.3(CLN6):c.514T>C (p.Tyr172His)

Gene:
CLN6:CLN6 transmembrane ER protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_017882.3(CLN6):c.514T>C (p.Tyr172His)
HGVS:
  • NC_000015.10:g.68211291A>G
  • NG_008764.2:g.50921T>C
  • NM_017882.3:c.514T>CMANE SELECT
  • NP_060352.1:p.Tyr172His
  • LRG_832t1:c.514T>C
  • LRG_832:g.50921T>C
  • LRG_832p1:p.Tyr172His
  • NC_000015.9:g.68503629A>G
Protein change:
Y172H
Links:
Molecular consequence:
  • NM_017882.3:c.514T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Neuronal ceroid lipofuscinosis 6 (CLN6)
Synonyms:
CEROID LIPOFUSCINOSIS, NEURONAL, 6, VARIABLE AGE AT ONSET; Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant; CLN6-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:
MONDO: MONDO:0011144; MedGen: C1866282; Orphanet: 168491; OMIM: 601780

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001571376Centre for Inherited Metabolic Diseases, Karolinska University Hospitalcriteria provided, single submitter
Likely pathogenic
(Apr 13, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not 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 Centre for Inherited Metabolic Diseases, Karolinska University Hospital, SCV001571376.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not provideddiscovery1not providednot providednot provided

Last Updated: Jul 29, 2021

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