ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.634T>G (p.Ser212Ala)

gnomAD frequency: 0.00001  dbSNP: rs1415407939
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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 RCV000804655 SCV000944572 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-08-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 212 of the UNC13D protein (p.Ser212Ala). 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 UNC13D-related conditions. ClinVar contains an entry for this variant (Variation ID: 649671). 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: "Benign"; 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 RCV004028186 SCV004975440 uncertain significance Inborn genetic diseases 2023-02-24 criteria provided, single submitter clinical testing The c.634T>G (p.S212A) alteration is located in exon 8 (coding exon 8) of the UNC13D gene. This alteration results from a T to G substitution at nucleotide position 634, causing the serine (S) at amino acid position 212 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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