ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1607T>C (p.Val536Ala)

dbSNP: rs727503128
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150926 SCV000198568 uncertain significance not specified 2014-01-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val536Ala varia nt in LDB3 has not been previously reported in individuals with cardiomyopathy. Data from large population studies is insufficient to assess the frequency of th is variant. Valine (Val) at position 536 is not conserved in evolution and >10 f ish species carry an alanine (Ala), supporting that this change may be tolerated . Additional computational analyses (biochemical amino acid properties, AlignGVG D, PolyPhen2, and SIFT) do not provide strong support for or against an impact t o the protein. Although the presence of the variant amino acid in other species supports that this variant is more likely benign, additional studies are needed to fully assess the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001373992 SCV001570746 uncertain significance Myofibrillar myopathy 4 2020-01-21 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 163849). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with alanine at codon 536 of the LDB3 protein (p.Val536Ala). The valine residue is highly conserved and there is a small physicochemical difference between the two amino acids. The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.2, and corresponds to NM_001080116.1:c.*17328T>C in the primary transcript.
Fulgent Genetics, Fulgent Genetics RCV002492555 SCV002775533 uncertain significance Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 2021-09-07 criteria provided, single submitter clinical testing

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