ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.314C>T (p.Ala105Val)

dbSNP: rs104894909
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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 RCV002512978 SCV003443985 likely pathogenic not provided 2023-05-08 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 11426). This missense change has been observed in individuals with CHILD syndrome (PMID: 10710235, 15689440, 19906044, 25093865, 26459993). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 105 of the NSDHL protein (p.Ala105Val).
OMIM RCV000012179 SCV000032413 pathogenic Child syndrome 2000-02-14 no assertion criteria provided literature only
GeneReviews RCV000012179 SCV000040833 not provided Child syndrome no assertion provided clinical testing

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