ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.395C>A (p.Ser132Tyr)

gnomAD frequency: 0.00011  dbSNP: rs780219953
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071547 SCV001236855 uncertain significance Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 2023-05-17 criteria provided, single submitter clinical testing 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. 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 TFG protein function. ClinVar contains an entry for this variant (Variation ID: 864373). This variant has not been reported in the literature in individuals affected with TFG-related conditions. This variant is present in population databases (rs780219953, gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 132 of the TFG protein (p.Ser132Tyr).
GeneDx RCV001759850 SCV001985189 uncertain significance not provided 2023-05-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002555909 SCV003529306 uncertain significance Inborn genetic diseases 2022-08-16 criteria provided, single submitter clinical testing The c.395C>A (p.S132Y) alteration is located in exon 4 (coding exon 3) of the TFG gene. This alteration results from a C to A substitution at nucleotide position 395, causing the serine (S) at amino acid position 132 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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