ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1181A>G (p.Gln394Arg)

dbSNP: rs796053442
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189784 SCV000243432 uncertain significance not provided 2020-05-04 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000189784 SCV000548743 uncertain significance not provided 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 394 of the TPP1 protein (p.Gln394Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TPP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 207588). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TPP1 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 RCV002517902 SCV003554649 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.1181A>G (p.Q394R) alteration is located in exon 10 (coding exon 10) of the TPP1 gene. This alteration results from a A to G substitution at nucleotide position 1181, causing the glutamine (Q) at amino acid position 394 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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