ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2335G>A (p.Asp779Asn)

dbSNP: rs1583199685
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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 RCV000792980 SCV000932311 uncertain significance Familial aplasia of the vermis 2024-05-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 779 of the AHI1 protein (p.Asp779Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 33921607). ClinVar contains an entry for this variant (Variation ID: 640041). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692247 SCV005189257 uncertain significance not provided criteria provided, single submitter not provided

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