ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.510C>G (p.Asn170Lys)

gnomAD frequency: 0.00004  dbSNP: rs778210239
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053283 SCV001217541 uncertain significance Familial aplasia of the vermis 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 170 of the INPP5E protein (p.Asn170Lys). This variant is present in population databases (rs778210239, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with INPP5E-related conditions. ClinVar contains an entry for this variant (Variation ID: 849343). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Baylor Genetics RCV001335947 SCV001529212 uncertain significance Joubert syndrome 1 2018-05-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Preventiongenetics, part of Exact Sciences RCV003433003 SCV004116663 uncertain significance INPP5E-related condition 2023-10-04 criteria provided, single submitter clinical testing The INPP5E c.510C>G variant is predicted to result in the amino acid substitution p.Asn170Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.030% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-139333362-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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