ClinVar Miner

Submissions for variant NM_033400.3(ZFHX2):c.496C>G (p.Leu166Val)

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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 RCV004214712 SCV003712423 uncertain significance not specified 2021-10-22 criteria provided, single submitter clinical testing The c.496C>G (p.L166V) alteration is located in exon 2 (coding exon 1) of the ZFHX2 gene. This alteration results from a C to G substitution at nucleotide position 496, causing the leucine (L) at amino acid position 166 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003918986 SCV004730748 likely benign ZFHX2-related disorder 2019-06-19 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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