ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2940T>G (p.Asp980Glu)

gnomAD frequency: 0.00001  dbSNP: rs879643674
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040715 SCV001204304 uncertain significance Aortic aneurysm, familial thoracic 7 2023-10-05 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 980 of the MYLK protein (p.Asp980Glu). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MYLK-related conditions. ClinVar contains an entry for this variant (Variation ID: 839041). 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 MYLK 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.
Fulgent Genetics, Fulgent Genetics RCV002481881 SCV002790039 uncertain significance Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 2021-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553070 SCV003687227 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.2940T>G (p.D980E) alteration is located in exon 18 (coding exon 15) of the MYLK gene. This alteration results from a T to G substitution at nucleotide position 2940, causing the aspartic acid (D) at amino acid position 980 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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