ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1657C>A (p.His553Asn)

gnomAD frequency: 0.00002  dbSNP: rs1488010574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001779756 SCV002015545 uncertain significance not provided 2021-10-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Invitae RCV001868829 SCV002184250 uncertain significance Myofibrillar myopathy 4 2022-07-19 criteria provided, single submitter clinical testing The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*17378C>A in the primary transcript. This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 553 of the LDB3 protein (p.His553Asn). 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. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV004040799 SCV004897916 uncertain significance Cardiovascular phenotype 2023-12-09 criteria provided, single submitter clinical testing The c.1657C>A (p.H553N) alteration is located in exon 9 (coding exon 9) of the LDB3 gene. This alteration results from a C to A substitution at nucleotide position 1657, causing the histidine (H) at amino acid position 553 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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