ClinVar Miner

Submissions for variant NM_030928.4(CDT1):c.704A>G (p.Asn235Ser)

dbSNP: rs761792897
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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 RCV002039350 SCV002112163 uncertain significance not provided 2022-12-06 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1349903). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 235 of the CDT1 protein (p.Asn235Ser). This variant is present in population databases (rs761792897, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CDT1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.
Ambry Genetics RCV002545395 SCV003728054 uncertain significance Inborn genetic diseases 2025-01-09 criteria provided, single submitter clinical testing The c.704A>G (p.N235S) alteration is located in exon 5 (coding exon 5) of the CDT1 gene. This alteration results from a A to G substitution at nucleotide position 704, causing the asparagine (N) at amino acid position 235 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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