ClinVar Miner

Submissions for variant NM_003823.4(TNFRSF6B):c.823C>T (p.Arg275Trp)

gnomAD frequency: 0.00002  dbSNP: rs756317669
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665217 SCV000789295 uncertain significance Dyskeratosis congenita, autosomal recessive 5 2017-01-30 criteria provided, single submitter clinical testing
Invitae RCV001868200 SCV002191982 uncertain significance not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 275 of the TNFRSF6B protein (p.Arg275Trp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with TNFRSF6B-related conditions. ClinVar contains an entry for this variant (Variation ID: 550464). 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 tryptophan 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 RCV003243247 SCV003938512 uncertain significance Inborn genetic diseases 2023-04-06 criteria provided, single submitter clinical testing The c.823C>T (p.R275W) alteration is located in exon 3 (coding exon 3) of the TNFRSF6B gene. This alteration results from a C to T substitution at nucleotide position 823, causing the arginine (R) at amino acid position 275 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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