ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.209C>T (p.Pro70Leu)

dbSNP: rs766269932
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522134 SCV000620105 uncertain significance not provided 2017-08-21 criteria provided, single submitter clinical testing The P70L variant in the KBTBD13 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Adequate data is not available in large population cohorts to assess the frequency of this variant in publicly available databases; however, this variant has been detected in 1/78584 (0.0015) alleles in presumably healthy individuals tested at GeneDx. The P70L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved, however, in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P70L as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000701750 SCV000830565 uncertain significance Nemaline myopathy 6 2024-10-29 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 70 of the KBTBD13 protein (p.Pro70Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KBTBD13-related conditions. ClinVar contains an entry for this variant (Variation ID: 451407). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt KBTBD13 protein function with a negative predictive value of 80%. 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 RCV002525203 SCV003543452 uncertain significance Inborn genetic diseases 2021-07-06 criteria provided, single submitter clinical testing The c.209C>T (p.P70L) alteration is located in exon 1 (coding exon 1) of the KBTBD13 gene. This alteration results from a C to T substitution at nucleotide position 209, causing the proline (P) at amino acid position 70 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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