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NM_001142864.4(PIEZO1):c.2209C>A (p.Leu737Met) AND Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 25, 2019
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:
RCV001270740.4

Allele description [Variation Report for NM_001142864.4(PIEZO1):c.2209C>A (p.Leu737Met)]

NM_001142864.4(PIEZO1):c.2209C>A (p.Leu737Met)

Genes:
HSALR1:HSP90AB1 associated lncRNA 1 [Gene - HGNC]
PIEZO1:piezo type mechanosensitive ion channel component 1 (Er blood group) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_001142864.4(PIEZO1):c.2209C>A (p.Leu737Met)
HGVS:
  • NC_000016.10:g.88734026G>T
  • NG_042229.1:g.56195C>A
  • NM_001142864.4:c.2209C>AMANE SELECT
  • NP_001136336.2:p.Leu737Met
  • LRG_1137t1:c.2209C>A
  • LRG_1137:g.56195C>A
  • LRG_1137p1:p.Leu737Met
  • NC_000016.9:g.88800434G>T
  • NM_001142864.2:c.2209C>A
Protein change:
L737M
Links:
dbSNP: rs985377446
NCBI 1000 Genomes Browser:
rs985377446
Molecular consequence:
  • NM_001142864.4:c.2209C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS1)
Synonyms:
PSEUDOHYPERKALEMIA EDINBURGH; DEHYDRATED HEREDITARY STOMATOCYTOSIS AND PSEUDOHYPERKALEMIA; DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008689; MedGen: C4551512; Orphanet: 3202; OMIM: 194380

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001451488Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Uncertain significance
(Apr 25, 2019) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.

Glogowska E, Schneider ER, Maksimova Y, Schulz VP, Lezon-Geyda K, Wu J, Radhakrishnan K, Keel SB, Mahoney D, Freidmann AM, Altura RA, Gracheva EO, Bagriantsev SN, Kalfa TA, Gallagher PG.

Blood. 2017 Oct 19;130(16):1845-1856. doi: 10.1182/blood-2017-05-786004. Epub 2017 Jul 17.

PubMed [citation]
PMID:
28716860
PMCID:
PMC5649553

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001451488.1

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

Description

The PIEZO1 c.2209C>A (p.Leu737Met) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Leu737Met variant is reported at a frequency of 0.000115 in the African population of the Genome Aggregation Database though this is based on one allele in a region of poor sequence coverage. Most pathogenic variants in PIEZO1 described in the literature are highly conserved and located in the C-terminal pore-region domain (Glogowska et al 2017). The Leu737 residue is not evolutionarily conserved based on a majority of in silico tools, and is also not located in the domain where most pathogenic variants have been described. Based on the limited evidence, the p.Leu737Met variant is classified as a variant of uncertain significance for dehydrated hereditary stomatocytosis.

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

Last Updated: Apr 6, 2024