Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV000670353 | SCV002060216 | uncertain significance | Tay-Sachs disease | 2021-11-16 | criteria provided, single submitter | clinical testing | NM_000520.4(HEXA):c.1204_1206delAAG(K402del) is an in-frame deletion variant classified as a variant of uncertain significance in the context of hexosaminidase A deficiency. K402del has not been observed in cases with relevant disease. Functional assessments of this variant are not available in the literature. K402del has been observed in population frequency databases (gnomAD: NFE <0.001%). In summary, there is insufficient evidence to classify NM_000520.4(HEXA):c.1204_1206delAAG(K402del) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening. |
Invitae | RCV000670353 | SCV003442960 | uncertain significance | Tay-Sachs disease | 2022-03-18 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 554678). This variant has been observed in individual(s) with Tay-Sachs disease (PMID: 9150157). This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant, c.1204_1206del, results in the deletion of 1 amino acid(s) of the HEXA protein (p.Lys402del), but otherwise preserves the integrity of the reading frame. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |