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NM_000540.3(RYR1):c.1909A>G (p.Ile637Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 27, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000721433.9

Allele description [Variation Report for NM_000540.3(RYR1):c.1909A>G (p.Ile637Val)]

NM_000540.3(RYR1):c.1909A>G (p.Ile637Val)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.3(RYR1):c.1909A>G (p.Ile637Val)
HGVS:
  • NC_000019.10:g.38457614A>G
  • NG_008866.1:g.28915A>G
  • NM_000540.3:c.1909A>GMANE SELECT
  • NM_001042723.2:c.1909A>G
  • NP_000531.2:p.Ile637Val
  • NP_000531.2:p.Ile637Val
  • NP_001036188.1:p.Ile637Val
  • LRG_766t1:c.1909A>G
  • LRG_766:g.28915A>G
  • LRG_766p1:p.Ile637Val
  • NC_000019.9:g.38948254A>G
  • NM_000540.2:c.1909A>G
Protein change:
I637V
Links:
dbSNP: rs567084532
NCBI 1000 Genomes Browser:
rs567084532
Molecular consequence:
  • NM_000540.3:c.1909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.1909A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000574261GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 27, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000574261.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The I637V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I637V variant is observed in 37/16512 (0.22%) alleles from individuals of South Asian background, including 1 homozygous individual in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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

Last Updated: Oct 20, 2024