ClinVar Miner

Submissions for variant NM_006214.4(PHYH):c.574_576dup (p.Ala192_Trp193insAla)

dbSNP: rs2131640741
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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 RCV002512886 SCV003441635 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 7585). This variant is also known as A192-193ins. This variant has been observed in individual(s) with Refsum's disease (PMID: 10767344). This variant is not present in population databases (gnomAD no frequency). This variant, c.574_576dup, results in the insertion of 1 amino acid(s) of the PHYH protein (p.Ala192dup), but otherwise preserves the integrity of the reading frame.
OMIM RCV000008023 SCV000028228 pathogenic REFSUM DISEASE, ADULT, 1 2000-05-01 no assertion criteria provided literature only

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