ClinVar Miner

Submissions for variant NM_020738.4(KIDINS220):c.974A>G (p.Asn325Ser)

gnomAD frequency: 0.00024  dbSNP: rs77973158
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857293 SCV002175564 uncertain significance not provided 2025-01-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 325 of the KIDINS220 protein (p.Asn325Ser). This variant is present in population databases (rs77973158, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with KIDINS220-related conditions. ClinVar contains an entry for this variant (Variation ID: 441104). 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 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.
Ambry Genetics RCV002524945 SCV003693343 likely benign Inborn genetic diseases 2022-04-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GenomeConnect, ClinGen RCV000509109 SCV000607227 not provided Spastic paraplegia, intellectual disability, nystagmus, and obesity no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
PreventionGenetics, part of Exact Sciences RCV003409724 SCV004115027 uncertain significance KIDINS220-related disorder 2024-06-25 no assertion criteria provided clinical testing The KIDINS220 c.974A>G variant is predicted to result in the amino acid substitution p.Asn325Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.082% of alleles in individuals of East Asian descent in gnomAD, which may be too frequent to be a primary cause of disease. Although we suspect that this variant may be benign, 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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