ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.281C>T (p.Pro94Leu)

gnomAD frequency: 0.00001  dbSNP: rs772912790
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058438 SCV001223011 uncertain significance Myofibrillar myopathy 4 2023-01-30 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 853598). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs772912790, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 94 of the LDB3 protein (p.Pro94Leu).
Ambry Genetics RCV002436629 SCV002749504 uncertain significance Cardiovascular phenotype 2023-12-19 criteria provided, single submitter clinical testing The c.281C>T (p.P94L) alteration is located in exon 3 (coding exon 3) of the LDB3 gene. This alteration results from a C to T substitution at nucleotide position 281, causing the proline (P) at amino acid position 94 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003130136 SCV003816499 uncertain significance not provided 2022-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230629 SCV003928321 uncertain significance not specified 2023-04-17 criteria provided, single submitter clinical testing

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