ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.592_597dup (p.Val198_Ala199dup)

dbSNP: rs2151666355
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002050173 SCV002110365 likely pathogenic not provided 2024-10-23 criteria provided, single submitter clinical testing This variant, c.592_597dup, results in the insertion of 2 amino acid(s) of the PAFAH1B1 protein (p.Val198_Ala199dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with PAFAH1B1-related conditions (internal data). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1346649). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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