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NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Aug 10, 2021)
Last evaluated:
Jun 25, 2019
Accession:
VCV000982086.3
Variation ID:
982086
Description:
single nucleotide variant
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NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg)

Allele ID
970202
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 49130806 (GRCh38) GRCh38 UCSC
3: 49168239 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.49168239A>G
NC_000003.12:g.49130806A>G
NG_008094.1:g.7361T>C
NM_002292.4:c.970T>C MANE Select NP_002283.3:p.Cys324Arg missense
Protein change
C324R
Other names
-
Canonical SPDI
NC_000003.12:49130805:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter - RCV001261592.1
Uncertain significance 1 criteria provided, single submitter Jun 25, 2019 RCV001557926.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LAMB2 - - GRCh38
GRCh37
450 463

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Pierson syndrome
Allele origin: germline
Pathology and Clinical Laboratory Medicine,King Fahad Medical City
Accession: SCV001438864.1
Submitted: (May 26, 2020)
Evidence details
Uncertain significance
(Jun 25, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001779776.1
Submitted: (Aug 10, 2021)
Evidence details
Comment:
In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Sep 23, 2021