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NM_000310.4(PPT1):c.442G>T (p.Gly148Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 9, 2021)
Last evaluated:
Oct 30, 2020
Accession:
VCV001251928.1
Variation ID:
1251928
Description:
single nucleotide variant
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NM_000310.4(PPT1):c.442G>T (p.Gly148Ter)

Allele ID
1241877
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.2
Genomic location
1: 40089504 (GRCh38) GRCh38 UCSC
1: 40555176 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.40555176C>A
NC_000001.11:g.40089504C>A
NG_009192.1:g.12967G>T
... more HGVS
Protein change
G148*, G45*
Other names
-
Canonical SPDI
NC_000001.11:40089503:C:A
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 Oct 30, 2020 RCV001650479.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PPT1 - - GRCh38
GRCh37
406 419

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(Oct 30, 2020)
criteria provided, single submitter
Method: research
Neuronal ceroid lipofuscinosis 1
Affected status: yes
Allele origin: unknown
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: AGHI WGS
Accession: SCV001870334.1
Submitted: (Sep 09, 2021)
Comment:
ACMG codes:PVS1, PM2
Number of individuals with the variant: 1
Clinical Features:
Absent speech (yes)

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 Nov 27, 2021