ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.340G>A (p.Gly114Ser)

gnomAD frequency: 0.00001  dbSNP: rs1443020418
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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 RCV001044931 SCV001208755 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-05-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 114 of the DCLRE1C protein (p.Gly114Ser). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 842503). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV002552570 SCV003593633 uncertain significance Inborn genetic diseases 2021-10-29 criteria provided, single submitter clinical testing The c.340G>A (p.G114S) alteration is located in exon 5 (coding exon 5) of the DCLRE1C gene. This alteration results from a G to A substitution at nucleotide position 340, causing the glycine (G) at amino acid position 114 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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