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NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Aug 5, 2021)
Last evaluated:
Jul 26, 2021
Accession:
VCV000406845.10
Variation ID:
406845
Description:
single nucleotide variant
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NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro)

Allele ID
391446
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45331684 (GRCh38) GRCh38 UCSC
1: 45797356 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.45797356A>G
LRG_220:g.13787T>C
LRG_220t1:c.1163T>C LRG_220p1:p.Leu388Pro
... more HGVS
Protein change
L388P, L361P, L245P, L268P, L375P, L385P, L360P, L371P
Other names
-
Canonical SPDI
NC_000001.11:45331683:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Links
ClinGen: CA16610175
dbSNP: rs1060501335
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Jul 26, 2021 RCV000465018.6
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Apr 3, 2020 RCV000771347.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MUTYH - - GRCh38
GRCh37
1651 1756

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 27, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000903631.2
Submitted: (May 19, 2020)
Comment:
This missense variant replaces leucine with proline at codon 388 of the MUTYH protein. This variant is also known as p.Leu360Pro and p.Leu374Pro based on … (more)
Evidence details
Pathogenic
(Apr 03, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001170213.2
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (7)
Comment:
The p.L388P pathogenic mutation (also known as c.1163T>C), located in coding exon 12 of the MUTYH gene, results from a T to C substitution at … (more)
Pathogenic
(Feb 14, 2020)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV000545761.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces leucine with proline at codon 388 of the MUTYH protein (p.Leu388Pro). The leucine residue is highly conserved and there is a … (more)
Likely pathogenic
(Jul 26, 2021)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697667.2
Submitted: (Aug 05, 2021)
Evidence details
Publications
PubMed (6)
Comment:
Variant summary: MUTYH c.1163T>C (p.Leu388Pro) results in a non-conservative amino acid change located in the NUDIX hydrolase domain (IPR000086) of the encoded protein sequence. Five … (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
- - - - PMID: 16134147
- - - - PMID: 16941501
- - - - PMID: 17949294
- - - - PMID: 20848659
- - - - PMID: 23322991
- - - - PMID: 23605219
- - - - PMID: 25820570

Text-mined citations for rs1060501335...

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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 Dec 04, 2021