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NM_015974.3(CRYL1):c.691C>T (p.Arg231Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 27, 2023
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:
RCV004370252.1

Allele description [Variation Report for NM_015974.3(CRYL1):c.691C>T (p.Arg231Trp)]

NM_015974.3(CRYL1):c.691C>T (p.Arg231Trp)

Gene:
CRYL1:crystallin lambda 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_015974.3(CRYL1):c.691C>T (p.Arg231Trp)
HGVS:
  • NC_000013.11:g.20413330G>A
  • NG_127368.1:g.572G>A
  • NM_001363647.2:c.529C>T
  • NM_015974.3:c.691C>TMANE SELECT
  • NP_001350576.1:p.Arg177Trp
  • NP_057058.2:p.Arg231Trp
  • NC_000013.10:g.20987469G>A
  • NM_015974.2:c.691C>T
Protein change:
R177W
Molecular consequence:
  • NM_001363647.2:c.529C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015974.3:c.691C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004851659Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 27, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004851659.1

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

Description

The c.691C>T (p.R231W) alteration is located in exon 6 (coding exon 6) of the CRYL1 gene. This alteration results from a C to T substitution at nucleotide position 691, causing the arginine (R) at amino acid position 231 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024