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NM_001077365.2(POMT1):c.1426C>G (p.Leu476Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 21, 2020
Accession:
VCV001003504.1
Variation ID:
1003504
Description:
single nucleotide variant
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NM_001077365.2(POMT1):c.1426C>G (p.Leu476Val)

Allele ID
993212
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 131518897 (GRCh38) GRCh38 UCSC
9: 134394284 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.134394284C>G
NC_000009.12:g.131518897C>G
NM_001077365.2:c.1426C>G MANE Select NP_001070833.1:p.Leu476Val missense
... more HGVS
Protein change
L324V, L346V, L359V, L381V, L422V, L444V, L446V, L472V, L476V, L498V
Other names
-
Canonical SPDI
NC_000009.12:131518896:C: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
Uncertain significance 1 criteria provided, single submitter May 21, 2020 RCV001300065.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
POMT1 - - GRCh38
GRCh37
561 599

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 21, 2020)
criteria provided, single submitter
Method: clinical testing
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Walker-Warburg congenital muscular dystrophy
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Allele origin: germline
Invitae
Accession: SCV001489189.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces leucine with valine at codon 498 of the POMT1 protein (p.Leu498Val). The leucine residue is moderately conserved and there is a … (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 Jun 14, 2021