ClinVar Miner

Submissions for variant NM_020884.7(MYH7B):c.1248G>C (p.Lys416Asn)

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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 RCV004302017 SCV003956100 uncertain significance not specified 2023-05-17 criteria provided, single submitter clinical testing The c.1374G>C (p.K458N) alteration is located in exon 17 (coding exon 15) of the MYH7B gene. This alteration results from a G to C substitution at nucleotide position 1374, causing the lysine (K) at amino acid position 458 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003738410 SCV004558058 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 458 of the MYH7B protein (p.Lys458Asn). This variant is present in population databases (rs757932346, gnomAD 0.02%). 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: 2523179). 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 with a positive 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.

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