ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.1610T>C (p.Val537Ala)

gnomAD frequency: 0.00013  dbSNP: rs369266504
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001321586 SCV001512423 uncertain significance not provided 2022-07-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 537 of the DLL3 protein (p.Val537Ala). This variant is present in population databases (rs369266504, gnomAD 0.01%). 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: 1021768). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV005330696 SCV005990555 uncertain significance Inborn genetic diseases 2025-03-07 criteria provided, single submitter clinical testing The c.1610T>C (p.V537A) alteration is located in exon 7 (coding exon 7) of the DLL3 gene. This alteration results from a T to C substitution at nucleotide position 1610, causing the valine (V) at amino acid position 537 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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