ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.440C>T (p.Thr147Ile)

gnomAD frequency: 0.00023  dbSNP: rs145784842
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001218227 SCV001390100 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 147 of the FAM20A protein (p.Thr147Ile). This variant is present in population databases (rs145784842, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with FAM20A-related conditions. ClinVar contains an entry for this variant (Variation ID: 947205). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV002480718 SCV002800760 uncertain significance Amelogenesis imperfecta type 1G 2022-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002562447 SCV003679489 uncertain significance Inborn genetic diseases 2024-10-06 criteria provided, single submitter clinical testing The c.440C>T (p.T147I) alteration is located in exon 2 (coding exon 2) of the FAM20A gene. This alteration results from a C to T substitution at nucleotide position 440, causing the threonine (T) at amino acid position 147 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001218227 SCV005193047 uncertain significance not provided criteria provided, single submitter not provided

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