ClinVar Miner

Submissions for variant NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile)

gnomAD frequency: 0.00081  dbSNP: rs143960563
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000986965 SCV001017580 likely benign Intellectual disability, autosomal recessive 42 2024-10-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000986965 SCV001527039 uncertain significance Intellectual disability, autosomal recessive 42 2018-01-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV005051839 SCV005685880 uncertain significance not provided 2024-07-24 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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