ClinVar Miner

Submissions for variant NM_144670.6(A2ML1):c.3397A>C (p.Asn1133His)

gnomAD frequency: 0.00001  dbSNP: rs1466413438
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004026147 SCV003856910 uncertain significance not specified 2023-01-13 criteria provided, single submitter clinical testing The p.N1133H variant (also known as c.3397A>C), located in coding exon 28 of the A2ML1 gene, results from an A to C substitution at nucleotide position 3397. The asparagine at codon 1133 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003558531 SCV004305826 uncertain significance not provided 2023-07-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 559445). This variant has not been reported in the literature in individuals affected with A2ML1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 1133 of the A2ML1 protein (p.Asn1133His). 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 disruptive. 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.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000677142 SCV000803139 uncertain significance Noonan syndrome 1 2018-08-03 no assertion criteria provided clinical testing The A2ML1 c.3397A>C variant was identified in a patient with a known pathogenic variant in PTPN11; phase is not known.

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