ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.918C>A (p.Ser306Arg)

gnomAD frequency: 0.00002  dbSNP: rs771290855
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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 RCV001948918 SCV002215912 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2024-01-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 306 of the LTBP3 protein (p.Ser306Arg). This variant is present in population databases (rs771290855, gnomAD 0.007%). 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: 1438210). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002370572 SCV002686182 uncertain significance Inborn genetic diseases 2023-01-26 criteria provided, single submitter clinical testing The c.918C>A (p.S306R) alteration is located in exon 4 (coding exon 4) of the LTBP3 gene. This alteration results from a C to A substitution at nucleotide position 918, causing the serine (S) at amino acid position 306 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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