ClinVar Miner

Submissions for variant NM_144670.6(A2ML1):c.1280A>G (p.Asn427Ser)

gnomAD frequency: 0.00003  dbSNP: rs537292419
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004039988 SCV004860218 uncertain significance not specified 2024-01-17 criteria provided, single submitter clinical testing The c.1280A>G (p.N427S) alteration is located in exon 12 (coding exon 12) of the A2ML1 gene. This alteration results from a A to G substitution at nucleotide position 1280, causing the asparagine (N) at amino acid position 427 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001723480 SCV005770412 uncertain significance not provided 2024-03-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 427 of the A2ML1 protein (p.Asn427Ser). This variant is present in population databases (rs537292419, gnomAD 0.004%). 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: 1297716). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723480 SCV001952285 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723480 SCV001974147 likely benign not provided no assertion criteria provided clinical testing

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