Submissions for variant NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000814732	SCV000955154	uncertain significance	Autosomal recessive polycystic kidney disease	2018-09-28	criteria provided, single submitter	clinical testing	This sequence change replaces alanine with threonine at codon 3207 of the PKHD1 protein (p.Ala3207Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with polycystic kidney disease (PMID: 19914852). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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