ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.47G>A (p.Arg16His)

gnomAD frequency: 0.00002  dbSNP: rs767986134
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244847 SCV001418097 uncertain significance Myofibrillar myopathy 4 2022-08-12 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 969485). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 16 of the LDB3 protein (p.Arg16His).
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001244847 SCV001984377 uncertain significance Myofibrillar myopathy 4 2020-03-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327594 SCV002634475 uncertain significance Cardiovascular phenotype 2022-09-02 criteria provided, single submitter clinical testing The p.R16H variant (also known as c.47G>A), located in coding exon 1 of the LDB3 gene, results from a G to A substitution at nucleotide position 47. The arginine at codon 16 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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