Submissions for variant NM_004629.2(FANCG):c.1153C>A (p.Pro385Thr)

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Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002559233	SCV003272144	uncertain significance	Fanconi anemia	2022-07-02	criteria provided, single submitter	clinical testing	This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 385 of the FANCG protein (p.Pro385Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Fanconi anemia (PMID: 23613520). ClinVar contains an entry for this variant (Variation ID: 929694). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Leiden Open Variation Database	RCV001194960	SCV001364831	uncertain significance	Fanconi anemia complementation group G	2013-09-29	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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