ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2971G>A (p.Glu991Lys)

gnomAD frequency: 0.00001  dbSNP: rs367588704
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Santos-Cortez Lab, University of Colorado School of Medicine RCV000770774 SCV000899106 likely pathogenic Autosomal dominant nonsyndromic hearing loss 4A 2019-01-17 criteria provided, single submitter research
Invitae RCV001855975 SCV002193344 uncertain significance not provided 2022-07-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 626217). 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. This variant is also known as c.2971G>A (p.Glu991Lys). This missense change has been observed in individual(s) with clinical features of MYH14-related conditions (PMID: 30828794). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 950 of the MYH14 protein (p.Glu950Lys).
GeneDx RCV001855975 SCV002496259 uncertain significance not provided 2023-05-10 criteria provided, single submitter clinical testing Identified in a patient with congenital bilateral profound sensorineural hearing loss in published literature (Truong et al., 2019); 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: 30828794)

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