Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000664577 | SCV000788564 | uncertain significance | Tay-Sachs disease | 2017-04-27 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000664577 | SCV003457497 | uncertain significance | Tay-Sachs disease | 2022-08-21 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 200 of the HEXA protein (p.Val200Met). This variant is present in population databases (rs1800429, gnomAD 0.007%). This missense change has been observed in individual(s) with Tay-Sachs disease (PMID: 1415222). ClinVar contains an entry for this variant (Variation ID: 446383). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects HEXA function (PMID: 1415222, 16698036). 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 | RCV002527443 | SCV003720579 | uncertain significance | Inborn genetic diseases | 2022-08-03 | criteria provided, single submitter | clinical testing | The c.598G>A (p.V200M) alteration is located in exon 6 (coding exon 6) of the HEXA gene. This alteration results from a G to A substitution at nucleotide position 598, causing the valine (V) at amino acid position 200 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |