ClinVar Miner

Submissions for variant NM_022458.4(LMBR1):c.423+4915C>T

gnomAD frequency: 0.00001  dbSNP: rs587779752
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001854530 SCV002240296 pathogenic not provided 2023-09-04 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the LMBR1 gene. It does not directly change the encoded amino acid sequence of the LMBR1 protein. This variant is present in population databases (rs587779752, gnomAD 0.1%). This variant has been observed in individual(s) with preaxial polydactyly and/or triphalangeal thumb (PMID: 24777739). It has also been observed to segregate with disease in related individuals. This variant is also known as ZRS 402C>T. ClinVar contains an entry for this variant (Variation ID: 126371). Studies have shown that this variant affects the ZPA regulatory sequence (ZRS) within intron 5 of the LMBR1 gene, which regulates the expression of certain genes that are important for limb development (PMID: 29651423). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. For these reasons, this variant has been classified as Pathogenic.
Ahituv Lab, University of California San Francisco RCV000148025 SCV000147872 pathogenic Tibia, hypoplasia or aplasia of, with polydactyly no assertion criteria provided research
OMIM RCV000148023 SCV000195523 pathogenic Triphalangeal thumb 2014-04-28 no assertion criteria provided literature only
OMIM RCV000148024 SCV000195524 pathogenic Polydactyly of a triphalangeal thumb 2014-04-28 no assertion criteria provided literature only
OMIM RCV000148025 SCV000195525 pathogenic Tibia, hypoplasia or aplasia of, with polydactyly 2014-04-28 no assertion criteria provided literature only

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