ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.485G>C (p.Gly162Ala)

gnomAD frequency: 0.00038  dbSNP: rs371177340
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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 RCV001981771 SCV002221123 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-11-07 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 162 of the LTBP3 protein (p.Gly162Ala). This variant is present in population databases (rs371177340, gnomAD 0.1%). 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: 1444271). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002562888 SCV003700281 uncertain significance Inborn genetic diseases 2022-12-28 criteria provided, single submitter clinical testing The c.485G>C (p.G162A) alteration is located in exon 2 (coding exon 2) of the LTBP3 gene. This alteration results from a G to C substitution at nucleotide position 485, causing the glycine (G) at amino acid position 162 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004694037 SCV005191346 uncertain significance not provided criteria provided, single submitter not provided

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