ClinVar Miner

Submissions for variant NM_198270.4(NHS):c.302_337dup (p.Glu101_Ala112dup) (rs398124607)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082800 SCV000114848 uncertain significance not provided 2014-11-03 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000082800 SCV000609372 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV000538726 SCV000636707 uncertain significance Nance-Horan syndrome 2016-09-25 criteria provided, single submitter clinical testing This sequence change inserts 36 nucleotides in exon 1 of the NHS mRNA (c.302_337dup36). This leads to the insertion of 12 amino acid residues in the NHS protein (p.Glu101_Ala112dup) but otherwise preserves the integrity of the reading frame. While this variant is not present in population databases (rs398124607), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a NHS-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, this is a novel variant with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000717937 SCV000848798 likely benign History of neurodevelopmental disorder 2018-11-09 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Does not segregate with disease in family study (genes with incomplete penetrance)

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