ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys)

dbSNP: rs137853863
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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 RCV002514124 SCV003445856 likely pathogenic not provided 2024-10-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 349 of the NSDHL protein (p.Tyr349Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of CHILD syndrome (PMID: 14527740, 15689440, 18825599; internal data). ClinVar contains an entry for this variant (Variation ID: 21265). 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. This variant disrupts the p.Tyr349 amino acid residue in NSDHL. Other variant(s) that disrupt this residue have been observed in individuals with NSDHL-related conditions (PMID: 15689440), which suggests that this may be a clinically significant amino acid residue. 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.
GeneReviews RCV000020427 SCV000040831 not provided Child syndrome no assertion provided clinical testing

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