ClinVar Miner

Submissions for variant NM_000351.6(STS):c.287G>A (p.Trp96Ter) (rs1463414987)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Faculty of Allied and Health Sciences,Imperial College of Business Studies RCV000853199 SCV000920776 pathogenic X-linked ichthyosis with steryl-sulfatase deficiency 2019-04-30 criteria provided, single submitter research Sanger sequencing identified a novel hemizygous nonsense mutation, chromosome X:7,175,519 (c.287G>A; p.W96*), in exon 4 of STS gene in the proband and all other affected male individuals, while this deleterious mutation was not detected in the normal controls. We report genetic findings of a large Pakistani family with XLI using direct DNA sequencing of the entire coding region of STS. The clinical manifestations occurred early in life and involved generalized dryness and scaling of the skin with polygonal, regular dark scales of the skin on scalp, posterior ear, neck, trunk and limbs, palms and soles were spared. There were no associated extra-cutaneous features such as shortness, hyposmia, cryptorchidism, photophobia, corneal opacities, autism, intellectual disability or attention deficit hyperactivity disorder.
FAHD UNIT, Department of Genetics,King Faisal Specialist Hospital and Research Centre RCV000853199 SCV000898139 pathogenic X-linked ichthyosis with steryl-sulfatase deficiency 2019-01-31 no assertion criteria provided research

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