ClinVar Miner

Submissions for variant NM_001318895.3(FHL2):c.402G>C (p.Gln134His)

gnomAD frequency: 0.00018  dbSNP: rs199585402
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704166 SCV000833104 benign Primary dilated cardiomyopathy 2024-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026654 SCV003729712 uncertain significance not specified 2021-08-02 criteria provided, single submitter clinical testing The c.402G>C (p.Q134H) alteration is located in exon 6 (coding exon 3) of the FHL2 gene. This alteration results from a G to C substitution at nucleotide position 402, causing the glutamine (Q) at amino acid position 134 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003945725 SCV004772685 likely benign FHL2-related disorder 2019-07-13 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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