ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.713G>A (p.Gly238Asp)

gnomAD frequency: 0.00003  dbSNP: rs775232059
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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 RCV001958517 SCV002226680 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2024-04-29 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 238 of the UNC13D protein (p.Gly238Asp). This variant is present in population databases (rs775232059, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with UNC13D-related conditions. ClinVar contains an entry for this variant (Variation ID: 1446506). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt UNC13D protein function with a negative predictive value of 80%. 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 RCV004970627 SCV005536236 uncertain significance Inborn genetic diseases 2024-09-27 criteria provided, single submitter clinical testing The c.713G>A (p.G238D) alteration is located in exon 9 (coding exon 9) of the UNC13D gene. This alteration results from a G to A substitution at nucleotide position 713, causing the glycine (G) at amino acid position 238 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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