ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.3062C>T (p.Pro1021Leu)

gnomAD frequency: 0.00004  dbSNP: rs375153464
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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 RCV001349301 SCV001543636 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-01-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1021 of the UNC13D protein (p.Pro1021Leu). This variant is present in population databases (rs375153464, gnomAD 0.01%). 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: 1044968). 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: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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 RCV004681134 SCV005180694 uncertain significance Inborn genetic diseases 2024-05-13 criteria provided, single submitter clinical testing The c.3062C>T (p.P1021L) alteration is located in exon 31 (coding exon 31) of the UNC13D gene. This alteration results from a C to T substitution at nucleotide position 3062, causing the proline (P) at amino acid position 1021 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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