ClinVar Miner

Submissions for variant NM_144670.6(A2ML1):c.2176G>T (p.Asp726Tyr)

gnomAD frequency: 0.00002  dbSNP: rs771684169
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000266577 SCV000330230 likely benign not provided 2018-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000266577 SCV002146465 uncertain significance not provided 2024-03-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 726 of the A2ML1 protein (p.Asp726Tyr). This variant is present in population databases (rs771684169, gnomAD 0.003%). 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: 280327). 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.
Ambry Genetics RCV004021065 SCV002727283 uncertain significance not specified 2024-02-22 criteria provided, single submitter clinical testing The c.2176G>T (p.D726Y) alteration is located in exon 18 (coding exon 18) of the A2ML1 gene. This alteration results from a G to T substitution at nucleotide position 2176, causing the aspartic acid (D) at amino acid position 726 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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