ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.89T>G (p.Leu30Arg)

gnomAD frequency: 0.00018  dbSNP: rs966781991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001896281 SCV002159472 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2024-04-03 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 30 of the LTBP3 protein (p.Leu30Arg). 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 variant has not been reported in the literature in individuals affected with LTBP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1392553). 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 RCV002553630 SCV003604691 uncertain significance Inborn genetic diseases 2022-01-07 criteria provided, single submitter clinical testing The c.89T>G (p.L30R) alteration is located in exon 1 (coding exon 1) of the LTBP3 gene. This alteration results from a T to G substitution at nucleotide position 89, causing the leucine (L) at amino acid position 30 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003481167 SCV004226187 uncertain significance not provided 2023-03-15 criteria provided, single submitter clinical testing

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