ClinVar Miner

Submissions for variant NM_001270.4(CHD1):c.4579G>A (p.Val1527Met)

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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 RCV004226126 SCV003743925 uncertain significance not specified 2021-09-16 criteria provided, single submitter clinical testing The c.4579G>A (p.V1527M) alteration is located in exon 34 (coding exon 34) of the CHD1 gene. This alteration results from a G to A substitution at nucleotide position 4579, causing the valine (V) at amino acid position 1527 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003918999 SCV004732975 likely benign CHD1-related disorder 2022-03-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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