ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.914C>A (p.Ala305Glu)

gnomAD frequency: 0.00001  dbSNP: rs544084461
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001240063 SCV001412984 uncertain significance Myofibrillar myopathy 4 2024-05-31 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.*7174C>A in the primary transcript. This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 305 of the LDB3 protein (p.Ala305Glu). This variant is present in population databases (rs544084461, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 965576). 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 RCV002375265 SCV002684819 uncertain significance Cardiovascular phenotype 2024-09-24 criteria provided, single submitter clinical testing The c.914C>A (p.A305E) alteration is located in exon 7 (coding exon 7) of the LDB3 gene. This alteration results from a C to A substitution at nucleotide position 914, causing the alanine (A) at amino acid position 305 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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