ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.3323A>C (p.Glu1108Ala)

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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 RCV003220053 SCV003908736 uncertain significance Inborn genetic diseases 2023-02-27 criteria provided, single submitter clinical testing The c.3323A>C (p.E1108A) alteration is located in exon 26 (coding exon 25) of the MYH9 gene. This alteration results from a A to C substitution at nucleotide position 3323, causing the glutamic acid (E) at amino acid position 1108 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003720802 SCV004503870 uncertain significance not provided 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 1108 of the MYH9 protein (p.Glu1108Ala). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MYH9-related conditions. ClinVar contains an entry for this variant (Variation ID: 2489820). 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 MYH9 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.
PreventionGenetics, part of Exact Sciences RCV004725683 SCV005337258 uncertain significance MYH9-related disorder 2024-05-09 no assertion criteria provided clinical testing The MYH9 c.3323A>C variant is predicted to result in the amino acid substitution p.Glu1108Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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