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LAMP2, 2-BP DEL, 1097AA

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Oct 16, 2021
Accession:
VCV000009973.2
Variation ID:
9973
Description:
deletion
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LAMP2, 2-BP DEL, 1097AA

Allele ID
25012
Variant type
Deletion
Variant length
-
Cytogenetic location
Xq24
Genomic location
-
HGVS
-
Protein change
-
Other names
2-BP DEL, 1097AA
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 309060.0001
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Oct 16, 2021 RCV000010654.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LAMP2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
504 672

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 16, 2021)
no assertion criteria provided
Method: literature only
DANON DISEASE
Allele origin: germline
OMIM
Accession: SCV000030880.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
Nishino, I., Fu, J., Tanji, K.,  (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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Title Author Journal Year Link
Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., Sue, C. M., Yamamoto, A., Murakami, N., Shanske, S., Byrne, E., Bonilla, E., Nonaka, I., DiMauro, S., Hirano, M. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 406: 906-910, 2000. - - - -

Record last updated Oct 21, 2021