ClinVar Miner

Submissions for variant NM_001690.4(ATP6V1A):c.979A>G (p.Ile327Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004966959 SCV005526590 uncertain significance Inborn genetic diseases 2024-07-02 criteria provided, single submitter clinical testing The c.979A>G (p.I327V) alteration is located in exon 8 (coding exon 7) of the ATP6V1A gene. This alteration results from a A to G substitution at nucleotide position 979, causing the isoleucine (I) at amino acid position 327 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005107947 SCV005784832 uncertain significance not provided 2024-10-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 327 of the ATP6V1A protein (p.Ile327Val). This variant is present in population databases (rs555121710, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ATP6V1A-related conditions. 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 ATP6V1A protein function with a negative predictive value of 80%. 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.

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