ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) (rs369588002)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521090 SCV000619609 uncertain significance not provided 2017-08-29 criteria provided, single submitter clinical testing The V507I variant has previously been reported in two siblings with autosomal recessive Perrault syndrome; these siblings were also compound heterozygous for a second missense variant in C10orf2 and neither variant was identified in these individual's unaffected siblings (Morino et al., 2014). The V507I 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 V507I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
OMIM RCV000149473 SCV000196117 pathogenic Perrault syndrome 5 2014-11-25 no assertion criteria provided literature only

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