ClinVar Miner

Submissions for variant NM_001183.6(ATP6AP1):c.1030C>T (p.Arg344Cys)

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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 RCV002623252 SCV003505205 benign not provided 2024-12-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529215 SCV004106753 uncertain significance ATP6AP1-related disorder 2023-03-13 criteria provided, single submitter clinical testing The ATP6AP1 c.1030C>T variant is predicted to result in the amino acid substitution p.Arg344Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.015% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/X-153663678-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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