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NM_002968.3(SALL1):c.379G>C (p.Val127Leu)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 25, 2021)
Last evaluated:
Jun 30, 2019
Accession:
VCV000258870.6
Variation ID:
258870
Description:
single nucleotide variant
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NM_002968.3(SALL1):c.379G>C (p.Val127Leu)

Allele ID
255802
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q12.1
Genomic location
16: 51141843 (GRCh38) GRCh38 UCSC
16: 51175754 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.51141843C>G
NG_007990.1:g.14430G>C
NM_001127892.2:c.88G>C NP_001121364.1:p.Val30Leu missense
... more HGVS
Protein change
V127L, V30L
Other names
-
Canonical SPDI
NC_000016.10:51141842:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00277
1000 Genomes Project 0.00140
The Genome Aggregation Database (gnomAD) 0.00143
Exome Aggregation Consortium (ExAC) 0.00196
Trans-Omics for Precision Medicine (TOPMed) 0.00221
The Genome Aggregation Database (gnomAD), exomes 0.00227
Links
ClinGen: CA8053504
dbSNP: rs138635817
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Feb 12, 2019 RCV000439131.5
Benign 1 criteria provided, single submitter - RCV000250871.5
Benign 1 criteria provided, single submitter Jun 30, 2019 RCV001089030.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SALL1 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
224 249

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000309282.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Aug 19, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000511642.1
Submitted: (Feb 17, 2017)
Evidence details
Benign
(Jul 31, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000843558.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (1)
Benign
(Jun 30, 2019)
criteria provided, single submitter
Method: clinical testing
Townes syndrome
Allele origin: germline
Invitae
Accession: SCV001006368.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Feb 12, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000522217.4
Submitted: (Sep 25, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 24429398)

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
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Hwang DY Kidney international 2014 PMID: 24429398

Text-mined citations for rs138635817...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 30, 2021