NM_017882.3(CLN6):c.721A>G (p.Met241Val) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Pathogenic(1);Uncertain significance(1) (Last evaluated: Dec 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000731367.3

Allele description [Variation Report for NM_017882.3(CLN6):c.721A>G (p.Met241Val)]

NM_017882.3(CLN6):c.721A>G (p.Met241Val)

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.721A>G (p.Met241Val)
HGVS:
  • NC_000015.10:g.68208355T>C
  • NG_008764.2:g.53857A>G
  • NM_017882.3:c.721A>GMANE SELECT
  • NP_060352.1:p.Met241Val
  • LRG_832t1:c.721A>G
  • LRG_832:g.53857A>G
  • LRG_832p1:p.Met241Val
  • NC_000015.9:g.68500693T>C
Protein change:
M241V
Links:
dbSNP: rs753994750
NCBI 1000 Genomes Browser:
rs753994750
Molecular consequence:
  • NM_017882.3:c.721A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000859176EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jan 10, 2018)
germlineclinical testing

Citation Link,

SCV001247324CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Dec 1, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000859176.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001247324.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

Support Center