ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1166T>C (p.Ile389Thr)

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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 RCV003100475 SCV003483833 uncertain significance Tay-Sachs disease 2022-07-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 389 of the HEXA protein (p.Ile389Thr). This variant is present in population databases (rs146714642, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with HEXA-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV003100476 SCV003618157 uncertain significance Inborn genetic diseases 2022-05-31 criteria provided, single submitter clinical testing The c.1166T>C (p.I389T) alteration is located in exon 11 (coding exon 11) of the HEXA gene. This alteration results from a T to C substitution at nucleotide position 1166, causing the isoleucine (I) at amino acid position 389 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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