ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8594C>T (p.Ser2865Leu) (rs147534616)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717930 SCV000848791 uncertain significance History of neurodevelopmental disorder 2017-01-19 criteria provided, single submitter clinical testing The p.S2865L variant (also known as c.8594C>T), located in coding exon 37 of the CHD7 gene, results from a C to T substitution at nucleotide position 8594. The serine at codon 2865 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825138 SCV000966401 likely benign not specified 2019-02-15 criteria provided, single submitter clinical testing The p.Ser2865Leu variant in CHD7 is classified as likely benign due to a lack of conservation across species. Four mammals (Cape elephant shrew, Cape golden mole, tenrec, aardvark) carry a leucine (Leu) at this position despite high nearby amino acid conservation. It has been identified in 2/19534 East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BP4_Strong.

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