ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1351C>G (p.Pro451Ala)

dbSNP: rs1589674758
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242755 SCV001415863 uncertain significance Myofibrillar myopathy 4 2020-03-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with LDB3-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with alanine at codon 451 of the LDB3 protein (p.Pro451Ala). The proline residue is highly conserved and there is a small physicochemical difference between the two amino acids. The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.2, and corresponds to NM_001080116.1:c.*17072C>G in the primary transcript.
Loeys Lab, Universiteit Antwerpen RCV001375639 SCV001572564 uncertain significance Isolated Noncompaction of the Ventricular Myocardium 2021-02-26 criteria provided, single submitter clinical testing This sequence change results in a missense variant in the LDB3 gene (p.(Pro456Ala)). This variant is not present in population databases such as GnomAD (PM2). This variant has not been reported in the literature and no functional data are available. Prediction programs show conflicting results (Align GVGD: C0; Polyphen-2-HumDiv: benign ; Polyphen-2-HumVar: benign; SIFT: tolerated; MutationTaster: disease causing). The variant affects a weakly conserved nucleotide and a moderately conserved amino acid. We identified this variant in a patient with LVNC. In conclusion this variant was classified as a variant of unknown significance according to ACMG-guidelines (insufficient data, criteria for other classification are not met: PM2).

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