ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.1675G>A (p.Ala559Thr)

gnomAD frequency: 0.00009  dbSNP: rs199553226
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043617 SCV001207372 uncertain significance Nephronophthisis 2022-05-07 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 559 of the INVS protein (p.Ala559Thr). This variant is present in population databases (rs199553226, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with INVS-related conditions. ClinVar contains an entry for this variant (Variation ID: 841405). 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 disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002481907 SCV002792598 uncertain significance Infantile nephronophthisis 2021-09-20 criteria provided, single submitter clinical testing

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