ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.743G>A (p.Arg248His)

gnomAD frequency: 0.00002  dbSNP: rs759859968
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713886 SCV000844526 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768113 SCV004693929 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2023-07-28 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TRPV4 protein function. ClinVar contains an entry for this variant (Variation ID: 586844). This variant has not been reported in the literature in individuals affected with TRPV4-related conditions. This variant is present in population databases (rs759859968, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 248 of the TRPV4 protein (p.Arg248His). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000713886 SCV005369736 uncertain significance not provided 2023-06-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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