ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.940G>T (p.Ala314Ser)

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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 RCV003042682 SCV003331344 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-03-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 314 of the DCLRE1C protein (p.Ala314Ser). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV003042681 SCV003717050 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.940G>T (p.A314S) alteration is located in exon 11 (coding exon 11) of the DCLRE1C gene. This alteration results from a G to T substitution at nucleotide position 940, causing the alanine (A) at amino acid position 314 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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