ClinVar Miner

Submissions for variant NM_014994.3(MAPKBP1):c.1531G>T (p.Val511Leu)

gnomAD frequency: 0.00241  dbSNP: rs139378790
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000889053 SCV001032712 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243364 SCV003940515 uncertain significance Inborn genetic diseases 2023-04-04 criteria provided, single submitter clinical testing The c.1549G>T (p.V517L) alteration is located in exon 14 (coding exon 13) of the MAPKBP1 gene. This alteration results from a G to T substitution at nucleotide position 1549, causing the valine (V) at amino acid position 517 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000889053 SCV005214502 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003948405 SCV004758697 benign MAPKBP1-related disorder 2023-08-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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