ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1403A>G (p.Asn468Ser)

gnomAD frequency: 0.00004  dbSNP: rs730880129
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242566 SCV001415661 uncertain significance Myofibrillar myopathy 4 2023-08-10 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 180401). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs730880129, gnomAD 0.007%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 468 of the LDB3 protein (p.Asn468Ser). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*17124A>G in the primary transcript.
GeneDx RCV001571178 SCV001795599 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001571178 SCV002497054 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing LDB3: PM2, BP4
Ambry Genetics RCV002390372 SCV002696783 likely benign Cardiovascular phenotype 2023-08-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Blueprint Genetics RCV000157289 SCV000207020 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-12-02 no assertion criteria provided clinical testing

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