ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr)

dbSNP: rs119463995
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675045 SCV000800477 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2017-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851612 SCV002286185 likely pathogenic Walker-Warburg congenital muscular dystrophy 2023-06-01 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FKTN protein function. ClinVar contains an entry for this variant (Variation ID: 3213). This missense change has been observed in individual(s) with FKTN-related conditions (PMID: 17878207, 19342235). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 114 of the FKTN protein (p.Ala114Thr).
OMIM RCV000003368 SCV000023526 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M 2009-05-01 no assertion criteria provided literature only

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