ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1937C>A (p.Pro646Gln) (rs397517852)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041168 SCV000064859 uncertain significance not specified 2011-11-01 criteria provided, single submitter clinical testing The Pro646Gln variant has not been previously reported but has been identified b y our laboratory in 1 individual with HCM. Proline (Pro) at position 646 is high ly conserved across evolutionarily distant species, increasing the likelihood th at a change would not be tolerated. In addition, computational tools (AlignGVGD, PolyPhen2, and SIFT) predict that this change will impact the protein, though t heir accuracy is unknown. Although this data increases the likelihood that this variant is pathogenic, it should be noted that the NEXN gene has not yet been wi dely sequenced. It therefore remains possible that this variant will turn out to be common in the general population once a larger number of individuals have be en sequenced. In summary, additional data is needed to determine the clinical si gnificance of this variant.

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