ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1321C>T (p.Pro441Ser)

gnomAD frequency: 0.00002  dbSNP: rs757728320
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000493732 SCV000581401 uncertain significance Myofibrillar myopathy 4 2022-10-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 429038). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*17042C>T in the primary transcript. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 441 of the LDB3 protein (p.Pro441Ser). 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 missense change has been observed in individual(s) with idiopathic ventricular fibrillation (PMID: 29032884). This variant is also known as p.Pro446Ser. 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.

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