ClinVar Miner

Submissions for variant NM_144670.6(A2ML1):c.2260G>A (p.Val754Ile)

gnomAD frequency: 0.00004  dbSNP: rs769726608
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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 RCV001981760 SCV002221118 uncertain significance not provided 2024-01-10 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 754 of the A2ML1 protein (p.Val754Ile). This variant is present in population databases (rs769726608, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with A2ML1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1444257). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine 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.
Ambry Genetics RCV003388064 SCV003999337 uncertain significance not specified 2023-11-06 criteria provided, single submitter clinical testing The c.2260G>A (p.V754I) alteration is located in exon 19 (coding exon 19) of the A2ML1 gene. This alteration results from a G to A substitution at nucleotide position 2260, causing the valine (V) at amino acid position 754 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003388064 SCV004099741 likely benign not specified 2023-09-11 criteria provided, single submitter clinical testing

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