ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5720C>T (p.Ser1907Leu)

dbSNP: rs2488029536
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002347686 SCV002650634 uncertain significance Inborn genetic diseases 2018-01-24 criteria provided, single submitter clinical testing The p.S1907L variant (also known as c.5720C>T), located in coding exon 28 of the CHD7 gene, results from a C to T substitution at nucleotide position 5720. The serine at codon 1907 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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