ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2161C>T (p.Arg721Cys)

gnomAD frequency: 0.00020  dbSNP: rs373929652
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658216 SCV000779987 uncertain significance not provided 2023-11-02 criteria provided, single submitter clinical testing Reported in a patient with severe bronchopulmonary dysplasia in published literature (PMID: 31848748); Identified in a patient with myopathy, neuropathy, and deafness in published literature (PMID: 34103343); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31848748, 34103343)
Invitae RCV000658216 SCV002127191 uncertain significance not provided 2020-12-21 criteria provided, single submitter clinical testing This variant is present in population databases (rs373929652, ExAC 0.07%). This sequence change replaces arginine with cysteine at codon 680 of the MYH14 protein (p.Arg680Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant has not been reported in the literature in individuals with MYH14-related conditions. ClinVar contains an entry for this variant (Variation ID: 546353). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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