ClinVar Miner

Submissions for variant NM_020884.7(MYH7B):c.2107A>G (p.Asn703Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004304025 SCV003952146 uncertain significance not specified 2023-06-13 criteria provided, single submitter clinical testing The c.2233A>G (p.N745D) alteration is located in exon 24 (coding exon 22) of the MYH7B gene. This alteration results from a A to G substitution at nucleotide position 2233, causing the asparagine (N) at amino acid position 745 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003738411 SCV004558385 uncertain significance not provided 2022-11-14 criteria provided, single submitter clinical testing This variant is present in population databases (rs754546838, gnomAD 0.008%). 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. 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) performed at Invitae indicates that this missense variant is expected to disrupt MYH7B protein function. This variant has not been reported in the literature in individuals affected with MYH7B-related conditions. This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 745 of the MYH7B protein (p.Asn745Asp).

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