ClinVar Miner

Submissions for variant NM_003865.3(HESX1):c.511_512del (p.Gln171fs) (rs752434998)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000178201 SCV000230218 pathogenic not provided 2014-12-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825935 SCV000967420 uncertain significance not specified 2018-10-10 criteria provided, single submitter clinical testing The p.Gln171ValfsExtX8 variant in HESX1 has not been previously reported in indi viduals with septo-optic dysplasia but has been identified in 0.1% (10/9844) of Ashkenazi Jewish chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant is predicted to cause a frameshift altering the protein?s terminal 14 am ino acids beginning at position 171, abolishing the stop codon, and extending th e protein by 8 amino acids. It is unclear if this alteration will impact the pro tein. In summary, the clinical significance of the p.Gln171ValfsExtX8 variant is uncertain. ACMG/AMP Criteria applied: PM4.

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