ClinVar Miner

Submissions for variant NM_004998.4(MYO1E):c.1713C>G (p.Asp571Glu)

gnomAD frequency: 0.00131  dbSNP: rs143249432
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001297587 SCV001486614 uncertain significance not provided 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 571 of the MYO1E protein (p.Asp571Glu). This variant is present in population databases (rs143249432, gnomAD 0.2%), 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 MYO1E-related conditions. ClinVar contains an entry for this variant (Variation ID: 1001311). 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 MYO1E 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.
Ambry Genetics RCV002543059 SCV003699365 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.1713C>G (p.D571E) alteration is located in exon 17 (coding exon 17) of the MYO1E gene. This alteration results from a C to G substitution at nucleotide position 1713, causing the aspartic acid (D) at amino acid position 571 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003973193 SCV004793775 likely benign MYO1E-related disorder 2022-05-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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