ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu) (rs72720524)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498521 SCV000589410 uncertain significance not provided 2017-06-21 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KIAA0196 gene. The P216L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P216L variant is observed in 29/6612 (0.4%) alleles from individuals of European Finnish background and in 113/66722 (0.2%) alleles from individuals of European non-Finnish background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P216L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably 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.
Invitae RCV001086849 SCV000636814 likely benign Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001163828 SCV001325909 benign Hereditary spastic paraplegia 8 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

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