ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.1056G>T (p.Lys352Asn)

gnomAD frequency: 0.00007  dbSNP: rs376526613
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001891129 SCV002164992 uncertain significance not provided 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 352 of the DLL3 protein (p.Lys352Asn). This variant is present in population databases (rs376526613, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with DLL3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1390694). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003617946 SCV004564183 uncertain significance Spondylocostal dysostosis 1, autosomal recessive 2023-09-06 criteria provided, single submitter clinical testing The DLL3 c.1056G>T; p.Lys352Asn variant (rs376526613), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1390694). This variant is observed in the general population with an overall allele frequency of 0.004% (12/282728 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.461). Due to limited information, the clinical significance of this variant is uncertain at this time.
Ambry Genetics RCV004975788 SCV005567597 uncertain significance Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing The c.1056G>T (p.K352N) alteration is located in exon 6 (coding exon 6) of the DLL3 gene. This alteration results from a G to T substitution at nucleotide position 1056, causing the lysine (K) at amino acid position 352 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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