ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.130del (p.Asn43_Val44insTer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005008884 SCV005634174 pathogenic Cutis laxa with osteodystrophy; Wrinkly skin syndrome 2024-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005112541 SCV005836175 pathogenic ALG9 congenital disorder of glycosylation 2024-04-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val44*) in the ATP6V0A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP6V0A2 are known to be pathogenic (PMID: 18157129, 19321599). This variant is present in population databases (rs761799156, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with autosomal recessive cutis laxa type 2 (PMID: 19321599). This variant is also known as p.N43fsX55. For these reasons, this variant has been classified as Pathogenic.

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