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NM_024747.6(HPS6):c.277G>T (p.Val93Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 30, 2020
Accession:
VCV000880396.2
Variation ID:
880396
Description:
single nucleotide variant
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NM_024747.6(HPS6):c.277G>T (p.Val93Leu)

Allele ID
865271
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q24.32
Genomic location
10: 102065751 (GRCh38) GRCh38 UCSC
10: 103825508 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.103825508G>T
NC_000010.11:g.102065751G>T
NG_012029.1:g.5362G>T
... more HGVS
Protein change
V93L
Other names
-
Canonical SPDI
NC_000010.11:102065750:G:T
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 Jan 12, 2018 RCV001108659.1
Likely benign 1 criteria provided, single submitter Oct 30, 2020 RCV001439916.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HPS6 - - GRCh38
GRCh37
110 125

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Hermansky-Pudlak syndrome 6
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001265925.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Oct 30, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001642819.1
Submitted: (Jan 07, 2021)
Evidence details

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 Oct 08, 2021