ClinVar Miner

Submissions for variant NM_152309.3(PIK3AP1):c.313G>T (p.Val105Leu)

gnomAD frequency: 0.00001  dbSNP: rs766269268
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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 RCV001245137 SCV001418406 uncertain significance Infantile spasms 2019-10-18 criteria provided, single submitter clinical testing 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PIK3AP1-related conditions. This variant is present in population databases (rs766269268, ExAC 0.05%). This sequence change replaces valine with leucine at codon 105 of the PIK3AP1 protein (p.Val105Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine.
Ambry Genetics RCV004034814 SCV005004021 uncertain significance not specified 2023-11-17 criteria provided, single submitter clinical testing The c.313G>T (p.V105L) alteration is located in exon 2 (coding exon 2) of the PIK3AP1 gene. This alteration results from a G to T substitution at nucleotide position 313, causing the valine (V) at amino acid position 105 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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