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NM_001038.6(SCNN1A):c.655dup (p.Trp219fs) AND Pseudohypoaldosteronism, type IB1, autosomal recessive

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 7, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002282741.1

Allele description [Variation Report for NM_001038.6(SCNN1A):c.655dup (p.Trp219fs)]

NM_001038.6(SCNN1A):c.655dup (p.Trp219fs)

Gene:
SCNN1A:sodium channel epithelial 1 subunit alpha [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_001038.6(SCNN1A):c.655dup (p.Trp219fs)
HGVS:
  • NC_000012.12:g.6363472dup
  • NG_011945.2:g.18886dup
  • NM_001038.6:c.655dupMANE SELECT
  • NM_001159575.2:c.724dup
  • NM_001159576.2:c.832dup
  • NP_001029.1:p.Trp219fs
  • NP_001153047.1:p.Trp242fs
  • NP_001153048.1:p.Trp278fs
  • NC_000012.11:g.6472638dup
  • NM_001038.6:c.655dupTMANE SELECT
Protein change:
W219fs
Molecular consequence:
  • NM_001038.6:c.655dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001159575.2:c.724dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001159576.2:c.832dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Pseudohypoaldosteronism, type IB1, autosomal recessive
Synonyms:
Pseudohypoaldosteronism, Type I, Autosomal Recessive; PHA I, AUTOSOMAL RECESSIVE; Pseudohypoaldosteronism, Type I, Recessive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009917; MedGen: C5774176; Orphanet: 171876; Orphanet: 756; OMIM: 264350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002570226Johns Hopkins Genomics, Johns Hopkins University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 7, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Johns Hopkins Genomics, Johns Hopkins University, SCV002570226.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This SCNN1A variant is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. This frameshift variant results in a premature stop codon in exon 5, likely leading to nonsense-mediated decay and lack of protein production. We consider this variant to be likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024