ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5504G>A (p.Arg1835His)

gnomAD frequency: 0.00005  dbSNP: rs754861302
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763320 SCV001990729 uncertain significance not provided 2019-03-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004953031 SCV005453532 uncertain significance Inborn genetic diseases 2024-07-02 criteria provided, single submitter clinical testing The c.5381G>A (p.R1794H) alteration is located in exon 38 (coding exon 37) of the MYH14 gene. This alteration results from a G to A substitution at nucleotide position 5381, causing the arginine (R) at amino acid position 1794 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001763320 SCV005774749 uncertain significance not provided 2024-05-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1794 of the MYH14 protein (p.Arg1794His). This variant is present in population databases (rs754861302, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with MYH14-related conditions. ClinVar contains an entry for this variant (Variation ID: 1308408). 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 MYH14 protein function. 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.
Kariminejad - Najmabadi Pathology & Genetics Center RCV001763320 SCV006075078 uncertain significance not provided 2020-09-11 criteria provided, single submitter clinical testing PP2, PP3

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