ClinVar Miner

Submissions for variant NM_020884.7(MYH7B):c.4949C>G (p.Thr1650Arg)

gnomAD frequency: 0.00029  dbSNP: rs200207301
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004027111 SCV004946078 uncertain significance not specified 2023-11-09 criteria provided, single submitter clinical testing The c.5075C>G (p.T1692R) alteration is located in exon 39 (coding exon 37) of the MYH7B gene. This alteration results from a C to G substitution at nucleotide position 5075, causing the threonine (T) at amino acid position 1692 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005092165 SCV005771347 uncertain significance not provided 2024-09-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 1692 of the MYH7B protein (p.Thr1692Arg). This variant is present in population databases (rs200207301, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with MYH7B-related conditions. ClinVar contains an entry for this variant (Variation ID: 599535). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MYH7B protein function with a negative predictive value of 80%. 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.
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000736173 SCV000864470 uncertain significance Short stature 2001-11-18 no assertion criteria provided case-control

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