ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.722G>C (p.Arg241Pro)

dbSNP: rs121434488
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851740 SCV002311576 likely pathogenic not provided 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 241 of the PAFAH1B1 protein (p.Arg241Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of PAFAH1B1-related conditions (PMID: 14581661; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 8080). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
OMIM RCV000008547 SCV000028755 pathogenic Subcortical band heterotopia 2003-10-28 no assertion criteria provided literature only

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