ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3448T>A (p.Ser1150Thr)

gnomAD frequency: 0.00003  dbSNP: rs750439539
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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 RCV001957107 SCV002200492 uncertain significance Familial aplasia of the vermis 2024-12-02 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 1150 of the AHI1 protein (p.Ser1150Thr). This variant is present in population databases (rs750439539, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with AHI1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1424148). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt AHI1 protein function with a negative predictive value of 95%. 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 RCV004044222 SCV004874929 uncertain significance Inborn genetic diseases 2023-12-12 criteria provided, single submitter clinical testing The c.3448T>A (p.S1150T) alteration is located in exon 26 (coding exon 24) of the AHI1 gene. This alteration results from a T to A substitution at nucleotide position 3448, causing the serine (S) at amino acid position 1150 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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