ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.293C>G (p.Thr98Ser)

dbSNP: rs376452959
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557459 SCV000630819 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 98 of the FKTN protein (p.Thr98Ser). 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 FKTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 459221). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002438328 SCV002747821 uncertain significance Cardiovascular phenotype 2022-11-15 criteria provided, single submitter clinical testing The p.T98S variant (also known as c.293C>G), located in coding exon 3 of the FKTN gene, results from a C to G substitution at nucleotide position 293. The threonine at codon 98 is replaced by serine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003144321 SCV003832679 uncertain significance not provided 2021-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915501 SCV004727881 uncertain significance FKTN-related condition 2023-10-31 criteria provided, single submitter clinical testing The FKTN c.293C>G variant is predicted to result in the amino acid substitution p.Thr98Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-108363553-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV000557459 SCV002078756 uncertain significance Walker-Warburg congenital muscular dystrophy 2019-10-28 no assertion criteria provided clinical testing

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