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NM_000257.4(MYH7):c.4772T>C (p.Leu1591Pro) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 23, 2017
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:
RCV000484676.9

Allele description [Variation Report for NM_000257.4(MYH7):c.4772T>C (p.Leu1591Pro)]

NM_000257.4(MYH7):c.4772T>C (p.Leu1591Pro)

Genes:
LOC126861897:BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 [Gene]
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.4772T>C (p.Leu1591Pro)
HGVS:
  • NC_000014.9:g.23416185A>G
  • NG_007884.1:g.24477T>C
  • NM_000257.4:c.4772T>CMANE SELECT
  • NP_000248.2:p.Leu1591Pro
  • LRG_384t1:c.4772T>C
  • LRG_384:g.24477T>C
  • LRG_384p1:p.Leu1591Pro
  • NC_000014.8:g.23885394A>G
  • NM_000257.2:c.4772T>C
  • NR_126491.1:n.446A>G
Protein change:
L1591P
Links:
dbSNP: rs730880808
NCBI 1000 Genomes Browser:
rs730880808
Molecular consequence:
  • NM_000257.4:c.4772T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_126491.1:n.446A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000565732GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Mar 23, 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, SCV000565732.3

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

Description

The L1591P variant in the MYH7 gene has been reported previously in a family with Laing distal myopathy (Tasca et al., 2012). The L1591P variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L1591P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The L1591P variant is a strong candidate for a pathogenic variant.

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

Last Updated: Nov 10, 2024