ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro) (rs149892167)

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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 RCV000723855 SCV000203094 uncertain significance not provided 2014-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000723855 SCV000582214 uncertain significance not provided 2017-05-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NIPBL gene. The Q663P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q663P variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Q663P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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