ClinVar Miner

Submissions for variant NM_014908.4(DOLK):c.344C>T (p.Ala115Val)

gnomAD frequency: 0.00006  dbSNP: rs146804211
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541424 SCV000638514 uncertain significance DK1-congenital disorder of glycosylation 2024-11-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 115 of the DOLK protein (p.Ala115Val). This variant is present in population databases (rs146804211, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with DOLK-related conditions. ClinVar contains an entry for this variant (Variation ID: 464199). 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 DOLK 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.
Fulgent Genetics, Fulgent Genetics RCV000541424 SCV002779993 uncertain significance DK1-congenital disorder of glycosylation 2021-07-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023977 SCV003691389 uncertain significance Cardiovascular phenotype 2021-11-10 criteria provided, single submitter clinical testing The c.344C>T (p.A115V) alteration is located in exon 1 (coding exon 1) of the DOLK gene. This alteration results from a C to T substitution at nucleotide position 344, causing the alanine (A) at amino acid position 115 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004791547 SCV005410826 uncertain significance not provided 2024-06-10 criteria provided, single submitter clinical testing

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