Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150919 | SCV000198545 | likely benign | not specified | 2014-03-14 | criteria provided, single submitter | clinical testing | 689+9C>T in intron 4 of LDB3: This variant is not expected to have clinical sign ificance because it is not located within the splice consensus sequence. 689+9 C>T in intron 4 of LDB3 (allele frequency = n/a) |
Gene |
RCV001704085 | SCV000520033 | likely benign | not provided | 2018-04-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000639883 | SCV000761466 | likely benign | Myofibrillar myopathy 4 | 2023-03-30 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000150919 | SCV000917575 | benign | not specified | 2017-10-02 | criteria provided, single submitter | clinical testing | Variant summary: The LDB3 c.689+9C>T variant causes a missense change involving the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was found in the control population dataset of gnomAD in 0.0000675, which is approximately 3 times the estimated maximal expected allele frequency of a pathogenic LDB3 variant (0.000025), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign. |