ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1846C>T (p.Pro616Ser)

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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 RCV003080084 SCV003480859 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-02-20 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 616 of the DCLRE1C protein (p.Pro616Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. 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 serine 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 RCV003250757 SCV003941165 uncertain significance Inborn genetic diseases 2023-05-09 criteria provided, single submitter clinical testing The c.1846C>T (p.P616S) alteration is located in exon 14 (coding exon 14) of the DCLRE1C gene. This alteration results from a C to T substitution at nucleotide position 1846, causing the proline (P) at amino acid position 616 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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