ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.2473G>A (p.Val825Ile)

gnomAD frequency: 0.00001  dbSNP: rs1303823400
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262776 SCV001440768 uncertain significance Arthrogryposis, distal, type 2B3 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV003770367 SCV004667097 uncertain significance not provided 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 825 of the MYH3 protein (p.Val825Ile). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MYH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 982993). 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 not expected to disrupt MYH3 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.
Ambry Genetics RCV004035401 SCV004943260 uncertain significance Inborn genetic diseases 2024-03-11 criteria provided, single submitter clinical testing The c.2473G>A (p.V825I) alteration is located in exon 22 (coding exon 20) of the MYH3 gene. This alteration results from a G to A substitution at nucleotide position 2473, causing the valine (V) at amino acid position 825 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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