NM_000260.4(MYO7A):c.4507G>T (p.Glu1503Ter) AND Usher syndrome type 1

Clinical significance:Likely pathogenic (Last evaluated: Jan 6, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000260.4(MYO7A):c.4507G>T (p.Glu1503Ter)]

NM_000260.4(MYO7A):c.4507G>T (p.Glu1503Ter)

MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.4507G>T (p.Glu1503Ter)
  • NC_000011.10:g.77198560G>T
  • NG_009086.1:g.75296G>T
  • NG_009086.2:g.75315G>T
  • NM_000260.4:c.4507G>TMANE SELECT
  • NM_001127180.2:c.4507G>T
  • NM_001369365.1:c.4474G>T
  • NP_000251.3:p.Glu1503Ter
  • NP_001120652.1:p.Glu1503Ter
  • NP_001356294.1:p.Glu1492Ter
  • LRG_1420t1:c.4507G>T
  • LRG_1420:g.75315G>T
  • LRG_1420p1:p.Glu1503Ter
  • NC_000011.9:g.76909605G>T
Protein change:
Molecular consequence:
  • NM_000260.4:c.4507G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127180.2:c.4507G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369365.1:c.4474G>T - nonsense - [Sequence Ontology: SO:0001587]


Usher syndrome type 1 (USH1)
Usher syndrome, type I, French variety; Retinitis pigmentosa and congenital deafness
MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001441833Myriad Women's Health, Inc.no assertion criteria provided
Likely pathogenic
(Jan 6, 2019)
unknownclinical testing

Citation Link


NM_000260.3(MYO7A):c.4507G>T(E1503*) is expected to be pathogenic in the context of MYO7A-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MYO7A, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.


Summary from all submissions

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

Details of each submission

From Myriad Women's Health, Inc., SCV001441833.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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