ClinVar Miner

Submissions for variant NM_144670.6(A2ML1):c.4018C>A (p.Gln1340Lys)

gnomAD frequency: 0.00023  dbSNP: rs182743597
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681420 SCV000808883 benign not provided 2019-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000681420 SCV001002798 likely benign not provided 2023-12-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265857 SCV002547690 likely benign not specified 2022-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002265857 SCV002622226 uncertain significance not specified 2023-08-30 criteria provided, single submitter clinical testing The p.Q1340K variant (also known as c.4018C>A), located in coding exon 31 of the A2ML1 gene, results from a C to A substitution at nucleotide position 4018. The glutamine at codon 1340 is replaced by lysine, 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.

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