ClinVar Miner

Submissions for variant NM_144670.6(A2ML1):c.1918G>A (p.Asp640Asn)

gnomAD frequency: 0.00001  dbSNP: rs483352823
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000106333 SCV002171851 uncertain significance not provided 2022-05-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 640 of the A2ML1 protein (p.Asp640Asn). This variant is present in population databases (rs483352823, gnomAD 0.0009%). This missense change has been observed in individual(s) with clinical features of neuro-cardio-facio-cutaneous syndromes (PMID: 24896146). ClinVar contains an entry for this variant (Variation ID: 120252). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV002483174 SCV002782457 uncertain significance Otitis media, susceptibility to 2021-07-30 criteria provided, single submitter clinical testing
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) RCV000106333 SCV000143832 not provided not provided no assertion provided not provided

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