ClinVar Miner

Submissions for variant NM_001270.4(CHD1):c.253G>C (p.Glu85Gln)

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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 RCV004904499 SCV005557057 uncertain significance not specified 2024-06-30 criteria provided, single submitter clinical testing The c.253G>C (p.E85Q) alteration is located in exon 2 (coding exon 2) of the CHD1 gene. This alteration results from a G to C substitution at nucleotide position 253, causing the glutamic acid (E) at amino acid position 85 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005365359 SCV005918458 likely benign Complex neurodevelopmental disorder 2021-09-09 criteria provided, single submitter research

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