ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr) (rs121908445)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000711329 SCV000240795 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing The I869T variant was identified in individuals from three unrelated families with autism spectrum disorder (ASDs) and in all cases was inherited from an unaffected parent; however, I869T was not identified on over 4000 control chromosomes, so the authors suggested it may be a susceptibility allele for ASD (Bakkaloglu et al., 2008). Subsequently, it was reported that variants in CNTNAP2, including I869T, have no significant association with ASD (Murdoch et al., 2015). This variant alters a position in the third laminin G-like domain of the protein, and functional studies indicate that it may alter protein expression (Falivelli et al., 2012). The I869T variant is observed in 76/10150 (0.7%) alleles from individuals of Ashkenazi Jewish background (Lek et al., 2016). The I869T variant is non-conservative, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether I869T is a pathogenic variant or a rare benign variant.
Invitae RCV000711329 SCV000553433 likely benign not provided 2019-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711329 SCV000841670 uncertain significance not provided 2018-03-12 criteria provided, single submitter clinical testing
OMIM RCV000005828 SCV000026010 risk factor Autism 15 2008-01-01 no assertion criteria provided literature only

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